Glossary for Ataxia

Medical terms related to Ataxia or mentioned in this section include:

• $3-Hydroxyacyl-CoA Dehydrogenase II Deficiency$: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• $3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency$: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
• ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
• Abetalipoproteinemia: A rare genetic disorder involving fat metabolism. The disorder is also known as Bassen-Kornzweig syndrome. Signs of the disease include acanthocytosis, little or no serum beta-lipoproteins and hypocholesterolemia. In severe cases, steatorrhea, ataxia, nystagmus, motor incoordination and retinitis pigmentosa may also occur.
• Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
• Aceruloplasminemia: A rare genetic disorder characterized by a lack of the protein ceruloplasmin in the blood resulting in a buildup of iron in the liver, brain and pancreas. This in turn causes diabetes and degeneration of the neural system causing tremors and walking abnormalities.
• Acute Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Chemical poisoning - Varnish makers' and painters' Naptha: Varnish makers' and painters' Naptha is an ingredient used in certain pesticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
• Acute Disseminated Encephalomyelitis: A type of encephalitis that usually follows an acute viral infection and involves an immune attack on myelin tissue which is part of the nervous system. Initial symptoms include fever, headache, vomiting and drowsiness followed by seizures, coma and paralysis. Often results in permanent neurological disorders.
• Acute Pesticide poisoning - xylene: Xylene is an ingredient used in certain insecticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
• Acute VE: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Adult-onset ALD: Form of ALD in adults.
• Alcohol abuse: Excessive alcohol as a symptom of other conditions
• Alcohol intoxication: excess intake of alcohol can lead to serious consequences
• Alexander Syndrome: Brain myelin disorder causing mental degeneration.
• Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
• Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
• Aminoaciduria: Increased amino acid levels in the urine which could indicate inborn metabolic disorders which may be caused by deficiencies in certain enzymes e.g. cystinuria.
• Amiodarone - Teratogenic Agent: There is strong evidence to indicate that exposure to Amiodarone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
• Anaemia, sideroblastic, X-linked - ataxia: A very rare inherited disorder characterized by mild anemia and early onset neurological motor symptoms. The neurological symptoms tend to be relatively stable or slowly progressive with only occasional dependence on crutches or wheelchairs.
• Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
• Aniridia ataxia renal agenesis psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormally kidneys.
• Apple seed poisoning: Apple seeds contain a toxic chemical called amygdalin which can cause serious symptoms if eaten in large quantities. Hospital admission is recommended if more than 50 apple seeds have been consumed.
• Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Argininosuccinase lyase deficiency, late onset: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The late onset form of the condition tends to start later in life as there is some level of activity by the defective enzyme. The condition tends to be less severe and can be triggered by a change in diet, illness or some other stress on the body.
• Arizona Bark Scorpion poisoning: A bite from the Arizona Bark scorpion contains chemicals toxic to the nerve system and can cause serious, life-threatening symptoms.
• Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
• Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
• Ataxia: Failure of muscular coordination
• Ataxia - apraxia - mental retardation, X-linked: A rare X-linked syndrome characterized mainly by ataxia, apraxia and mental retardation. The symptoms are generally nonprogressive.
• Ataxia - diabetes - goiter - gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Ataxia - oculomotor apraxia, type 1: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
• Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
• Ataxia deafness reardon type: A rare syndrome observed in a Kuwati family characterized by ataxia, deafness and mental retardation.
• Ataxia in children:
• Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
• Ataxia tapetoretinal degeneration: Conditions involving incoordination and an eye anomaly.
• Ataxia with Vitamin E Deficiency: A rare disorder where a genetic disorder results in impaired vitamin E deficiency which in turn causes progressive neurological problems such as ataxia.
• Ataxia, spastic with congenital miosis: A rare disorder characterized by movement problems of the limbs as well as an impaired pupil reaction to light (miosis).
• Ataxia, spastic, 3, autosomal recessive: A recessively inherited disorder characterized mainly by spasticity and ataxia.
• Ataxia-deafness syndrome: A rare syndrome characterized by the association of ataxia with deafness.
• Ataxia-oculomotor apraxia syndrome: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
• Ataxic gait: impairment of the ability to coordinate the movements required for normal ambulation which may result from impairments of motor function or sensory feedback
• Balance symptoms: Problems with balance or vertigo
• Baltic myoclonic epilepsy: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
• Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Basal Ganglia Disease, Adult-Onset: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
• Basal ganglia calcification, idiopathic 1: Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable.
• Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
• Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
• Baughman syndrome: A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails.
• Behavioral symptoms: Symptoms of personal behavior.
• Benign Paroxysmal Positional Vertigo: A condition where certain head movements cause extreme dizziness.
• Benign paroxysmal torticollis of infancy: A harmless condition characterized by recurring periods of head tilting resulting from dystonia (sustained muscle contractions) of the neck muscles. Other symptoms such as vomiting and irritability may also occur variably. Episodes tend to occur without any noticeable triggers and may last from hours to days. Episodes can occur as often as every two weeks or as infrequently as every couple of months.
• Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
• Bickerstaff's brainstem encephalitis: A rare condition where inflammation of the brainstem results in various symptoms such as ataxia and ophthalmoplegia. The onset of symptoms is usually acute.
• Bickerstaff's brainstem encephalitis (BBE): A rare condition where inflammation of the brainstem results in various symptoms such as ataxia and ophthalmoplegia. The onset of symptoms is usually acute.
• Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
• Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
• Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Blue-ringed octopus poisoning: The blue-ringed octopus is found in shallow Australian ocean water and can deliver venomous, potentially fatal bite. The poison is present in the saliva of the octopus. The venom affects the neuromuscular system.
• Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
• Borud Syndrome: A very rare syndrome characterized by numerous features including hearing and vision problems, heart muscle disease, ataxia and peripheral neuropathy.
• Brain abscess: abscess in the brain may involve any of the lobes of the brain
• Brain conditions: Medical conditions that affect the brain
• Brain symptoms: Symptoms affecting the brain
• Brain tumor: A condition which is characterized by the abnormal growth of tissue within the brain
• Bronchogenic carcinoma: When cells of the lung start growing rapidly in an uncontrolled manner, the condition is called lung cancer .
• Buckeye poisoning: Buckeye is a shrub or small tree which contains a toxic compound called aesculin that can cause gastrointestinal or neuromuscular symptoms. Young leaves, flowers and bark are the most toxic parts of the plant. The plant is most common in parts of North America. Eating only one or two seeds may simply cause vomiting or diarrhea but repeated exposure or eating large amounts can cause more serious symptoms.
• CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• CDG syndrome type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
• California encephalitis: An uncommon mosquito born virus (California encephalitis virus) which can cause brain inflammation in humans. The severity of symptoms is variable. The incubation period can last from a few days to a week. Infants and children tend to be more severely affected than adults who sometimes have no obvious symptoms.
• Cataract - ataxia - deafness: A rare syndrome characterized by cataracts, ataxia and progressive deafness.
• Celiac disease, susceptibility to 1: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6p21.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 10: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q25-q26. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 11: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q28. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 12: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6q25.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 13: The susceptibility to developing celiac disease due to a genetic defect in the SH2B3 gene on chromosome 12q24. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 2: The susceptibility to developing celiac disease due to a genetic defect on chromosome 5q31-q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 3: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 4: The susceptibility to developing celiac disease due to a genetic defect on chromosome 19p13.1. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 5: The susceptibility to developing celiac disease due to a genetic defect on chromosome 15q11-q13. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 6: The susceptibility to developing celiac disease due to a genetic defect on chromosome 4q27. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 7: The susceptibility to developing celiac disease due to a genetic defect on chromosome 1q31. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 8: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q11-q12. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 9: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3p21. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Central nervous system lymphoma, primary: A type of lymphoma that occurs in the central nervous system (brain and spinal cord). A lymphoma consists of cancerous lymphocytes which are a type of white blood cell. Symptoms vary according to the location of the lymphoma.
• Central nervous system protozoal infections: A protozoal infection of the central nervous system (spinal cord or brain). The infection may originate in the central nervous system (primary infection) or may spread from another part of the body (secondary infection). The infection may occur in otherwise healthy individuals or in individuals who have a compromised immune system. Primary protozoal CNS infections include cerebral amebiasis, granulomatous amebic encephalitis and secondary infections include cerebral malaria and cerebral babesiosis.
• Cerebellar abscess: An abscess that forms in the part of the brain called the cerebellum. The abscess may result from other infections such as ear infections, dental abscess and lung infections. The prognosis is determined by the size and exact location of the abscess
• Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
• Cerebellar ataxia type 1, autosomal recessive: A slow progressing brain disorder characterized by ataxia and dysarthria.
• Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
• Cerebellar ataxia, autosomal recessive: A group of rare, recessively inherited neurological disorders caused by abnormalities in the cerebellum and spinal cord. In some cases other parts of the body may be affected.
• Cerebellar ataxia, dominant pure: A dominantly inherited form of ataxia that involves only the cerebellar system.
• Cerebellar degeneration: Degeneration of nerves in the part of the brain called the cerebellum which controls balance and muscle coordination.
• Cerebellar degeneration, subacute: A rare disorder involving degeneration of the cerebellum and sometimes involves nearby spinal cord or brain tissue.
• Cerebellar hypoplasia: A rare brain disorder where a part of the brain (cerebellum) fails to develop fully. The cerebellum is the part of the brain that controls balance and movement.
• Cerebellar hypoplasia - endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
• Cerebellar hypoplasia - tapetoretinal degeneration: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and a nonprogressive eye disorder involving the retinal pigments. The cerebellum is the part of the brain that controls balance and movement.
• Cerebelloolivary atrophy: The degeneration of the parts of the brain called the cerebellum and the olives. Symptoms may vary from case to case depending on the severity and extent of the degeneration.
• Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
• Cerebelloparenchymal disorder V: An inherited brain disorder characterized by myoclonic jerks which become more apparent during voluntary movements.
• Cerebellum agenesis - hydrocephaly: A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
• Cerebral Amyloid Angiopathy, Familial: A rare disorder where abnormal deposits of amyloid in the brain blood vessels causes spasticity, incoordination and dementia. Brain hemorrhage and strokes may also result in severe cases.
• Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A rare inherited condition characterized primarily by progressive degeneration of the brain white matter and disease of the brain blood vessels as well as additional symptoms not involving the brain e.g. thin skin, alopecia and spinal disc disease.
• Cerebral Palsy: Any brain disorder causing movement disability
• Cerebral Palsy, Ataxic, Autosomal Recessive: Ataxic cerebral palsy refers to an injury to the brain that results primarily in low muscle tone and poor coordination of movements. The ataxic autosomal recessive form is an inherited abnormality in the development of the brain which is linked to chromosome 9p12-q12
• Cerebral gigantism - jaw cysts: A very rare syndrome characterized mainly by abnormal brain development and jaw cysts.
• Cerebral hemorrhage: Bleeding in the brain
• Cerebral sarcoma: A type of brain tumor that can be inherited in an autosomal dominant manner. The tumor arises from blood vessels in the brain. Symptoms may vary depending on the size and exact location of the tumor.
• Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
• Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
• Ceroid lipofuscinosis, neuronal 1, infantile: A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (palmitoyl-protein thioesterase) needed to process it.
• Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
• Ceroid lipofuscinosis, neuronal 5: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 5 is distinguished from other types by the origin of the genetic defect.
• Chediak-Higashi like syndrome: A rare genetic disorder characterized mainly by albinism (lack of pigmentation). There are three different subtypes of the disorder (I, II and III) each with varying additional features such as immunodeficiency and neurological symptoms. Type 1 involves partial albinism and neurological symptoms, type II involves partial albinism, immunodeficiency and sometimes neurological symptoms and type III involves albinism only.
• Chemical poisoning - 2,4,6-Trichlorophenol: 2,4,6-Trichlorophenol is a chemical used mainly as an antiseptic, pesticide, wood preservative, glue preservative and as an antimildew agent in the textile manufacturing industry. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Acrylamide: Acrylamide is a chemical used mainly in the treatment of waste water, grout agent, paper strengthening agent and adhesive agents. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Aftershave: Aftershave contains chemicals (ethyl alcohol, isopropyl alcohol) which can cause symptoms if ingested in sufficient quantities. Death from ingesting aftershave is considered unlikely. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Amitraz: Amitraz is a chemical used mainly as a topical parasitic preventative in livestock and fruit trees. It is also used as an insect repellant and a prevention of mite infestation. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Aniline: Aniline is a chemical used mainly in the manufacture of perfumes, varnishes, resins, dyes, paint removers, herbicides, fungicides, explosives, solvents and photographic chemicals. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Antifreeze: Antifreeze is used in vehicles to prevent freezing or boiling over of the cooling system. The chemicals (methanol, ethylene and propylene glycol) in the antifreeze can cause severe poisoning symptoms if ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Benzene: Benzene is a chemical used mainly in gasoline fuel and as an industrial solvent. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Gasoline: Gasoline is a chemical used as a fuel for combustion engines. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Jet Fuel-4: Jet Fuel-4 is an aviation turbine fuel used by the US military. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Mouth Wash: Mouth wash contains various chemicals which can cause serious symptoms if sufficient quantities are swallowed. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• Chorea familial benign: A rare movement disorder which is stable and involves abnormal involuntary movements (chorea) and continuous writhing movements.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
• Cleft lip palate - deafness - sacral lipoma: A very rare syndrome characterized mainly by an opening in the palate and lip, deafness and a lipoma in the end portion of the spine.
• Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
• Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
• Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.
• Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
• Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
• Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital disorder of Glycosylation type Ic: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a differs from the other subtypes by the type of enzyme which is deficient.
• Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital disorder of glycosylation type 1C: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a ?1,3-glucosyl-transferase enzyme defect.
• Coordination problems: Symptoms affecting physical coordination.
• Corneal cerebellar syndrome: A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body.
• Craniosynostosis - alopecia - brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
• Creutzfeldt-Jakob Disease: A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal.
• Cutler Syndrome: A rare disorder characterized by multisystem disorders including muscle wasting, ataxia, epilepsy, anemia and kidney disease. The kidney disease is most likely present at birth.
• Cutler-Bass-Romshe syndrome: A very rare syndrome characterized by kidney, neurological and thyroid problems.
• Cystinuria - lysinuria: A rare metabolic disorder characterized by the excessive excretion of certain amino acids (lysine and cystine) in the urine. Neurological symptoms are common.
• DOC 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Dandy Walker syndrome recessive form: A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the fluid builds up inside the skull.
• Dandy-Walker - facial hemangioma: A very rare syndrome characterized mainly by a brain malformation (Dandy-Walker) and a hemangioma on the face (mass of dilated blood vessels).
• Dandy-Walker Syndrome: A congenital brain malformation characterized by increased fluid in the brain.
• De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.
• Death Camas poisoning: The Death Camas is a plant from the lily family. It contains a toxic chemical called zygacine. Young plants tend to be more toxic than older plants. It is most often found in dry areas of Western US. The bulb is often confused with edible wild onions - eating one or two bulbs can cause symptoms and all parts of the plant are poisonous.
• Del (2) (q32-q33): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
• Delta-1-pyrroline 5-carboxylate synthetase deficiency: A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase).
• Demyelinating disorder: Any condition that is characterised by the destruction of the myelin sheaths of the nerves
• Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
• Diabetic neuropathy: nerve damage which maybe motor, sensory and autonomic
• Diarrhea chronic with villous atrophy: A very rare metabolic disorder which causes abnormalities in the intestinal lining which results in chronic diarrhea. The reported patients died at 12 years of age and suffered a variety of other problems.
• Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
• Diphtheria: Infectious bacterial respiratory disease
• Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Dravet syndrome: A rare, severe form of generalized infant epilepsy that starts after a fever. Initial infant development is normal but once the seizures start, psychomotor development slows and mental decline occurs. The seizures usually occur every month or two to start with.
• Dykes-Markes-Harper syndrome: A very rare syndrome characterized mainly by dry, scaly skin, enlarged liver and spleen and a incoordination.
• Dysequilibrium syndrome: A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination.
• East Syndrome: A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance.
• Encephalocele anterior: Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity.
• Encephalocele frontal: Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity.
• Encephaloceles: Improper protrusions of parts of the meninges and brain.
• Encephalopathy - intracranial calcification - growth hormone deficiency - microcephaly - retinal degeneration: A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment.
• Encephalopathy due to sulphite oxidase deficiency: An inborn error of metabolism where an enzyme (sulphite oxidase) deficiency results in encephalopathy. Symptoms usually start at birth.
• English Ivy poisoning: English Ivy is a poisonous vine fund in Europe, US and Canada. The leaves and berries are the most toxic part of the plant but all parts of the plant are toxic. Falcarinol and polyacetylene are the toxic chemicals found in the plant.
• Episodic ataxia, type 1: A rare genetic disorder characterized by episodes of incoordination and unsteadiness and continuous muscle movement (myokymia). Stress and exertion may trigger the ataxic episodes which usually last for only a few minutes and can occur several times a day. Type 1 is caused by a defect in the potassium channel gene on chromosome 12p13.
• Erythrokeratodermia with ataxia: A rare syndrome characterized by the association of a skin disorder with slowly progressive neurological symptoms.
• Ethosuximide - Teratogenic Agent: There is evidence to indicate that exposure to Ethosuximide (antiseizure medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Eucalyptus Oil poisoning: Eucalyptus oil can be used for medicinal purposes but excessive ingestion can cause problems. Likewise, eating the leaves of the eucalyptus plant (very unlikely) can also cause poisoning symptoms.
• Fabry's Disease: An inherited metabolic disorder where phospholipids are deposited mostly in the blood vessels as well as other tissues and organs. Symptoms include skin lesions, small red spots on the abdomen, thighs and scrotum, fever, peripheral edema, hypertension and renal failure. Also called angiokeratoma corporis diffusion, Anderson's syndrome, Anderson-Fabry disease, Morbus Anderson-Fabry, Ruiter-Pompen syndrome or Sweeley-Klionsky disease.
• Familial isolated deficiency of vitamin E: A rare neurodegenerative disorder caused by an inherited condition where the body is unable to absorb vitamin E from the food consumed.
• Feline spongiform encephalopathy: A prion disease believed to affect felines in a similar fashion to bovine spongiform encephalitis
• Female carrier ALD: Mild form of ALD in female carriers
• Fenton-Wilkinson-Toselano syndrome: A rare syndrome characterized mainly by ataxia, light sensitivity and short stature.
• Friedreich ataxia: A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain.
• Friedreich's ataxia: Progressive muscle weakness from nerve damage.
• Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
• Furukawa-Takagi-Nakao syndrome: A very rare syndrome characterized by muscle weakness and wasting, ataxia, diabetes and eye problems.
• Gabapentin - Teratogenic Agent: There is evidence to indicate that exposure to Gabapentin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Gait abnormality: Where a person has an abnormality of the usual walking gait
• Gait ataxia: impairment of the ability to coordinate the movements required for normal ambulation which may result from impairments of motor function or sensory feedback
• Gangliosidosis GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
• Gangliosidosis, generalized GM1 type 2: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase 1) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I. Death can occur early in life in severe cases but milder cases can survive into late childhood.
• Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
• Gaucher disease type 2: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological form apparent in infancy.
• Glioma: A rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and location of the tumor.
• Glucose transport defect, blood-brain barrier: A rare metabolic disorder involving a deficiency of a molecule needed to transport glucose (GLUT1). The glucose is unable to be transported from the blood and into the brain and cerebrospinal fluid. Sugar transport to the brain is essential for normal development. The blood sugar level remains normal. Fasting exacerbates symptoms which can very in severity depending on the degree of deficiency.
• Glutathione Synthetase Deficiency: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
• Glycine encephalopathy, atypical mild form: A rare disorder of amino acid metabolism where glycine are unable to be metabolized properly due to defects in the glycine cleavage system. The atypical mild form tends to be quite mild and can be difficult to diagnose due to the nonspecific symptoms.
• Golden Chain tree poisoning: The Golden Chain tree is a relatively small tree which produces bright yellow flowers. The plant contains a chemical called cytisine which can cause similar effects to nicotine if ingested and can be serious if patients have underlying health problems. All parts of the plant are poisonous if sufficient quantities are consumed.
• Granulomatous Angiitis of the Central Nervous System: Inflammation of blood vessels in the central nervous system (brain and spinal cord). The condition tends to recur.
• Grass spider poisoning: The grass spider is a type of funnel web spider native the western parts of the US.
• Griscelli disease: A rare genetic disorder characterized mainly by albinism (lack of pigmentation). There are three different subtypes of the disorder (I, II and III) each with varying additional features such as immunodeficiency and neurological symptoms. Type 1 involves partial albinism and neurological symptoms, type II involves partial albinism, immunodeficiency and sometimes neurological symptoms and type III involves albinism, only.
• Griscelli syndrome type I: A rare genetic condition characterized by a partial lack of pigmentation in the eye, skin and hair, clumps of pigmentation in hair shafts and neurological symptoms.
• Griscelli syndrome type II: A rare genetic condition characterized by a partial lack of pigmentation in the eye, skin and hair, clumps of pigmentation in hair shafts, immunodeficiency and neurological symptoms.
• Guam disease: A nerve degeneration disorder that occurs particularly in Guam and involves progressive dementia and parkinsonism which ultimately leads to death.
• Hallervorden-Spatz disease: Nerve disorder causing movement problems.
• Hartnup Disease: A disorder of amino acid transport resulting in light sensitive dermatitis, ataxia, migraines and personality changes.
• Heidenhain syndrome: A form of premature dementia caused by degeneration of the brain. It is considered a variant of Creutzfeldt-Jakob disease. Heidenhain syndrome is characterized mainly by eye problems whereas Creutzfeldt-Jakob predominantly involves ataxia.
• Hemangioblastoma: A benign tumor that tends to occur in the central nervous system such as the brain and spinal cord. The tumor arises from the stem cells that develop into blood vessels or blood cells (hemangioblasts). Symptoms vary depending on the exact location and size of the tumor.
• Homozygous hypobetalipoproteinemia: Inherited low blood betalipoprotein level. The type and severity of symptoms is determined by whether or not there are some betalipoproteins in the body.
• Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hydroxyacyl-coa dehydrogenase, type 2, deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Some cases simply involve developmental delay.
• Hypobetalipoproteinaemia - ataxia - hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
• Hypogonadism: medical term for a defect of the reproductive system that results in lack of function of the gonads (ovaries or testes).
• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response: A very rare syndrome characterized by reduced muscle tone and nystagmus in infants and ataxia. The electrical signals in nerves that send messages from the ears to the brain were abnormal but usually there were no hearing problems
• Hysteria: hysteria describes a state of mind, one of unmanageable fear or emotional excesses
• Ichythosiform Erythroderma with Leukocyte Vacuolation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Imbalance: A inability to adequately balance on two feet with consideration to age
• Immunosuppressive Measles Encephalitis: A rare complication of the measles virus. Some patients with a history of measles before the age of two develop progressive brain inflammation. The condition is rare and tends to only occur only in immunosuppressed children e.g. those who have acute lymphocytic leukemia. Symptoms may develop suddenly and tends to occur from weeks to months after the measles has resolved.
• Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
• Infant epilepsy with migrant focal crisis: A rare disorder characterized by infant epilepsy and progressive brain disease.
• Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
• Infantile polymyoclonus: A rare disorder characterized by involuntary muscle jerking and rapid eye movements. The condition is not progressive and symptoms go through periods of improvement and deterioration.
• Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
• Insulinoma: A rare form of pancreatic cancer that causes excessive secretion of the hormone insulin. A relatively small number of cases are malignant.
• Intermittent ataxia:
• Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
• Joubert Syndrome 1: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 1 is linked to a defect on chromosome 9q34.3.
• Joubert Syndrome 10: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 10 is linked to a defect on chromosome Xp22.3.
• Joubert Syndrome 2: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 2 is linked to a defect on chromosome 11p12-q13.3.
• Joubert Syndrome 3: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 3 is linked to a defect on chromosome 6q23.3.
• Joubert Syndrome 4: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 4 is linked to a defect on chromosome 2q13.
• Joubert Syndrome 5: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 5 is linked to a defect on chromosome 12q21.3.
• Joubert Syndrome 6: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 6 is linked to a defect on chromosome 8q21.13-q22.1.
• Joubert Syndrome 7: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 7 is linked to a defect on chromosome 16q12.2.
• Joubert Syndrome 8: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 8 is linked to a defect on chromosome 3q11.2.
• Joubert Syndrome 9: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 9 is linked to a defect on chromosome 4p15.3.
• Juvenile pilocytic astrocytoma: A type of brain tumor that occurs in children and young adults. The tumor is derived from a type of cell called an astrocyte and it can occur in various parts of the brain as well as the optic pathways and the spinal cord. Malignancy is rare. Symptoms may vary depending on the size and location of the tumor.
• Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
• Krabbe leukodystrophy: A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves.
• Kuru: An infectious prion disease that is only found in New Guinea
• Lactic Acidosis, Fatal Infantile: The excessive accumulation of lactic acid in the blood which leads to metabolic acidosis.
• Lactic acidosis congenital infantile: A rare congenital condition where an infant has high levels of lactic acid in the blood causing metabolic acidosis.
• Lamotrigine - Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Lantana poisoning: Lantana is a small flowering shrub with spiny stems. It bears small clusters of colorful flowers on a stalk and small green fruit which become dark when ripe. The plant contains a chemical called triterpene which can cause poisoning symptoms if eaten. Death can occur if sufficient quantities are eaten as the chemical is quite toxic. The green berries are considered the most toxic part of the plant but the leaves are also poisonous but less likely to be eaten. Skin irritation can also result from skin contact with the plant.
• Leukoencephalopathy - metaphyseal chondrodysplasia: A rare syndrome characterized by brain disease and abnormal skeletal development.
• Lhermitte-McAlpine syndrome: A type of neurodegenerative disorder that involves pyramidal and extrapyramidal symptoms. It can occur in middle-aged or old people and usually results in death within a year of onset.
• Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable.
• Lithium toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Lung cancer: Lung cancer is a disease of uncontrolled cell growth in tissues of the lung. This growth may lead to metastasis, which is the invasion of adjacent tissue and infiltration beyond the lungs. Most lung tumors are malignant.
• Luteinizing hormone releasing hormone, deficiency of, with ataxia: A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction.
• Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
• Macrocytic anemia: Macrocytic anemia is a blood disorder where the red blood cells are larger than normal but have low levels of haemoglobin which is needed to carry oxygen throughout the body. The condition usually results from a deficiency of vitamin B12 or folate, digestive problems, malabsorption and certain medications which affect folic acid levels. Various rare inherited disorders may also result in macrocytic anemia e.g. Lesch-Nyhan syndrome. Severity and range of symptom may vary depending on the underlying condition.
• Macrogyria, pseudobulbar palsy and mental retardation: A very rare syndrome characterized mainly by abnormal brain development which results in mild mental retardation, epilepsy, developmental delay and pseudobulbar palsy which affects speech, chewing and swallowing functions.
• Maple syrup urine disease, type 1A: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1A specifically involves a defect in the E1-alpha subunit gene.
• Maple syrup urine disease, type 1B: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 1B specifically involves a defect in the E1-beta subunit gene.
• Maple syrup urine disease, type II: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 2 specifically involves a defect in the E2 subunit gene.
• Maple syrup urine disease, type III: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 3 specifically involves a defect in the E3 subunit gene.
• Marinesco-Sjogren-like syndrome (MSLS): A very rare disorder characterized by cataracts (during childhood), mental retardation, muscle weakness and brain degeneration. The disorder is very similar to another syndrome called Marinesco-Sjogren syndrome.
• Mayapple poisoning: The Mayapple is a small flowering plant which is often found growing naturally. It bears small single flowers and apple-like fruit which turns yellow when ripe. The unripe fruit and leaves contain a chemical called podophyllin which can cause poisoning if eaten. The plant is considered highly toxic and death can occur if sufficient quantities are eaten. The leaves, roots and unripe fruit are toxic but the ripe fruit is edible. The plant has been used to treat venereal warts.
• Measles Encephalitis in Children with Immunosuppression: A rare complication of the measles virus. Some patients with a history of measles before the age of two develop progressive brain inflammation. The condition is rare and tends to only occur only in immunosuppressed children e.g. those who have acute lymphocytic leukemia. Symptoms may develop suddenly and tends to occur from weeks to months after the measles has resolved.
• Mediterranean myoclonic epilepsy: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
• Medulloblastoma: A type of brain tumor.
• Meinecke syndrome: A very rare syndrome characterized mainly by mental retardation and short broad thumbs.
• Meningoencephalocele: A very rare developmental disorder where a part of the membrane that covers the brain and or part of the brain itself protrudes through an abnormal opening in the skull. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.
• Mental retardation - hypocupremia - hypobetalipoproteinemia: A very rare syndrome characterized mainly by mental retardation, low blood copper levels and low betalipoprotein levels in the blood.
• Mental retardation - macrocephaly - coarse facies - hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
• Mental retardation - short broad thumbs: A very rare syndrome characterized mainly by mental retardation and short, broad thumbs.
• Mental retardation progressive spasticity: A condition characterized by mental retardation and progressive spasticity.
• Mental retardation progressive spasticity, X-linked: A very rare syndrome characterized mainly by mental retardation and progressive spasticity and seizures. The disorder is X-linked and hence only affects males.
• Mental retardation, X-linked - seizures - psoriasis: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance: A very rare syndrome characterized by moderate to severe mental retardation, unusual facial appearance and an underdeveloped brain.
• Mercury poisoning - Folk Remedies: Various folk remedies and medicines contain inorganic mercury and mercury salts. They can lead to mercury poisoning and severe cases can result in death. Children tend to be more sensitive to the effects of mercury poisoning than adults. Even low levels of exposure can cause neurological symptoms in infants and young children. Fetal exposure to mercury can also result in symptoms.
• Mercury poisoning - consumption of contaminated fish: Eating fish contaminated with mercury can lead to mercury poisoning in humans. The severity and range of symptoms experienced can vary greatly depending on the level and duration of exposure. Severe poisoning can lead to death. Pregnant women who eat mercury contaminated fish may give birth to infants who suffer symptoms such as ataxia, tremors, seizures, mental retardation and cerebral palsy. An epidemic was reported where hundreds of Japanese villagers suffered mercury poisoning after eating fish contaminated by a nearby factory. Nearly half of the victims eventually died and children born during that period suffered a variety of neurological problems.
• Mescal poisoning: The Mescal is a small rounded cactus which has no spines but has tufts of hairs and a flower in the centre. The plant is grown for use as a narcotic in some parts of the world due to its hallucinogenic effect. All above-ground parts of the plant contain toxic chemicals (mescaline, lophophorine) which can cause symptom if eaten. The plant itself is considered to have a low level of toxicity but the chemical mescaline derived from it can cause strong symptoms if ingested in excessive quantities. The psychic effects following plant ingestion can last from 6 to 12 hours.
• Metabolic disorder: occurs when abnormal chemical reactions occur in the body
• Metabolic disorders: Disorders that affect the metabolic system in human
• Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body.
• Metastatic insulinoma: A rare form of pancreatic cancer that causes excessive secretion of the hormone insulin and can spread to other parts of the body (metastasis).
• Mevalonic aciduria: A rare disorder of amino acid metabolism characterized by a defect in the enzyme mevalonate kinase.
• Miller Fisher Syndrome: Autoimmune nerve condition.
• Minamata disease: Ingestion of seafood containing methylmercury can result in neurological toxicity symptoms.
• Mistletoe poisoning: The mistletoe is an evergreen shrub that tends to grow on tree branches. It produces white berries which contain amines. The berries can cause poisoning if eaten in large quantities. Eating more than 20 berries or 5 leaves is likely to cause symptoms and patients should seek medical attention. Reported poisoning usually occur from drinking teas or extracts made from the plant.
• Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
• Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
• Mixed Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy (e.g. spastic, athetoid, ataxic) and a combination of two or more types is known as mixed cerebral palsy. The symptoms of mixed cerebral palsy usually involves spasticity and athetoid movements but other variations such as ataxia can occur.
• Movement symptoms: Changes to movement or motor abilities
• Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
• Muscle symptoms: Symptoms affecting the muscles of the body
• Myoclonus progressive epilepsy of Unverricht and Lundborg: A rare genetic brain disease characterized by convulsions which become progressively worse. Modern treatment can have a big effect on the prognosis.
• Myoclonus-ataxia: A rare syndrome characterized mainly by myoclonus and loss of movement coordination.
• Myopathy and diabetes mellitus: A very rare syndrome characterized mainly by muscle disease and diabetes mellitus. The condition was highly variable with respect to the severity, range and onset of symptoms.
• Nerve symptoms: Symptoms affecting the nerves
• Neuhauser-Daly-Magnelli syndrome: A very rare syndrome characterized by tremors, duodenal ulcers and involuntary eye movements (nystagmus).
• Neuroblastoma, Susceptibility to: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblstoma.
• Neuroblastoma, Susceptibility to, 1: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 1 is linked to a genetic defect on chromosome 1p36.
• Neuroblastoma, Susceptibility to, 2: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 2 is linked to a genetic defect on chromosome 4p12.
• Neuroblastoma, Susceptibility to, 3: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 3 is linked to a genetic defect on chromosome 2p23.
• Neuroblastoma, Susceptibility to, 4: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 4 is linked to a genetic defect on chromosome 6p.
• Neuroblastoma, Susceptibility to, 5: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 5 is linked to a genetic defect on chromosome 2q35.
• Neuroblastoma, Susceptibility to, 6: Neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue. Symptoms depend on the size and location of the tumor. Some people have particular genetic anomalies which makes them more susceptible to developing a neuroblastoma. Type 6 is linked to a genetic defect on chromosome 1q21.
• Neuroectodermal tumor, primitive: A very rare type of tumor that occurs in children under the age of ten. It is very aggressive and has a poor prognosis with less than half of patients surviving. The tumor originates from primitive nerve cells in the brain (CNS PNET) or other parts of the body (peripheral PNET). CNS tumors can be further divided into infratentorial tumors (e.g. medulloblastoma) or supratentorial tumors. The tumors usually cause no symptoms in the early stages and the symptoms that do develop will vary depending on the exact location and size of the tumor.
• Neuroferritinopathy: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
• Neuroferritinopathy (adult-onset basal ganglia disease): A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
• Neuronal intranuclear hyaline inclusion disease: A very rare syndrome characterized mainly by muscle problems and seizures. The disorder results from the presence of hyaline compounds inside nerve cells.
• Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
• Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
• Nutritional deficiency: Any deficiency of the nutrients that are required to sustain human life
• Oculodentoosseous dysplasia dominant: A very rare dominantly inherited syndrome characterized mainly by eye, tooth and finger abnormalities.
• Olivopontocerebellar Atrophy: A group of diseases progressive degeneration occurs in a particular area of the brain (olivopontocerebellar area) which results in various neurological symptoms.
• Olivopontocerebellar atrophy - deafness: A very rare syndrome characterized mainly by brain abnormalities and deafness.
• Ophtalmoplegia - ataxia - hypoacusis: A rare syndrome characterized by ophthalmoplegia, ataxia and reduced sensitivity to sound.
• Opsoclonus Myoclonus: Condition with involuntary muscle and eye movement.
• Opthalmoplegia ataxia hypoacusis: A rare disorder characterized by the association of ataxia, impaired hearing and eye movement problems.
• Optic atrophy - ophthalmoplegia - ptosis - deafness - myopathy: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Optic atrophy, hearing loss and peripheral neuropathy, autosomal recessive: A very rare, recessively inherited syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. The severity of the symptoms is variable.
• Oxcarbazepine - Teratogenic Agent: There is evidence to indicate that exposure to Oxcarbazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Parkinson's Disease: Degenerative brain condition characterised by tremor.
• Partington X-linked mental retardation syndrome: A rare genetic syndrome involving mental retardation, abnormal movements, seizures and ataxia. The syndrome is inherited in a X-linked manner which means that females are carriers but only males display the symptoms.
• Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
• Pellagra-like syndrome: A rare disorder where the body is unable to metabolise tryptophan which causes a distinctive skin rash and neurological symptoms.
• Peripheral neuropathy: Any loss in the function of the peripheral nervous system
• Pernicious anemia: A megaloblastic anaemia due to malabsorption of the vitamin B12
• Personality symptoms: Symptoms or changes to the personality.
• Phenytoin toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Phosphoribosylpyrophosphate synthetase superactivity: A rare X-linked metabolic disorder caused by the excessive activity of a particular enzyme (Phosphoribosylpyrophosphate synthetase). The main manifestations are increased production of uric acid and purine nucleotide.
• Pili torti - developmental delay - neurological abnormalities: A very rare syndrome characterized mainly by developmental delay, twisted hair shafts and neurological symptoms.
• Poikilodermatomyositis - mental retardation: A very rare syndrome characterized mainly by mental retardation , muscle inflammation and weakness and pigmentation abnormalities.
• Poisoning: The condition produced by poison
• Polyneuropathy: A disease involving multiple peripheral nerves.
• Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract: A very rare, recessively inherited condition characterized by the association of vision, hearing and neurological problems. The condition generally starts during the second decade of life and progresses slowly.
• Possible human carcinogenic exposure - Metronidazole: Some evidence indicates that exposure to Metronidazole has a possible link to an increased risk of developing cancer in humans. The carcinogenicity of the substance may be influenced by the duration and level of exposure. Metronidazole is a drug used to treat certain bacterial and parasitic infections.
• Posterior column ataxia with retinitis pigmentosa: A very rare syndrome characterized mainly by progressive ataxia and eye degeneration resulting in blindness by the third decade as well as muscle problems.
• Primary angiitis of the central nervous system: Inflammation of blood vessels that affect the central nervous system (brain and spinal cord). There are three main types within this category: benign angiitis of the central nervous system (BACNS), granulomatous angiitis of the central nervous system (GACNS) and atypical primary angiitis of the central nervous system (atypical ACNS). Symptoms vary depending on which particular type is involved and which part of the central nervous system is involved.
• Primidone - Teratogenic Agent: There is evidence to indicate that exposure to Primidone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Progressive Multifocal Leukoencephalopathy: Progressive degenerative condition of the brain.
• Progressive Rubella Panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
• Proximal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
• Psychogenic Movement Disorders: Movement problems for which no neurological, chemical or structural cause can be determined. The condition is believed to be the result of a psychiatric problem and symptoms occur subconsciously.
• Purine nucleoside phosphorylase deficiency: A very rare genetic disease involving an enzyme (purine nucleoside phosphorylase - PNP) deficiency which causes a buildup of toxic metabolic products which in turn impairs the development of T-cells (part of the body's immune system). The condition is characterized primarily by frequent infections and various neurological symptoms.
• Pyruvate dehydrogenase deficiency: An inherited carbohydrate metabolism disorder where a deficiency of pyruvate dehydrogenase results in metabolic acidosis and mental retardation as well as other neurological symptoms. The condition may be mild or severe. The condition is exacerbated by eating high carbohydrate meals and stress.
• Ramsay Hunt syndrome: Facial paralysis with a vesicular eruption
• Reardon-Wilson-Cavanagh syndrome: A rare genetic syndrome characterized by progressive ataxia, deafness and mental retardation.
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Retinopathy - anaemia- CNS anomalies: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Rett's syndrome: Autism-like behavioral syndrome in infant girls
• Revesz Debuse syndrome: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Revesz Syndrome: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Rhombencephalosynapsis: Abnormal development of the brain where the vermis of the cerebellum is partially or totally absent and the cerebellar hemispheres are joined together. The type and severity of symptoms depends on the severity of the abnormality - symptoms can range from mild ataxia to cerebral palsy and mental retardation. The condition is usually associated with various other abnormalities or syndromes.
• Richards-Rundle syndrome: A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.
• Robinow-Unger syndrome: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
• Robinson syndrome: A very rare condition observed in a West Coast Indian family. The condition is characterized by scoliosis, hearing impairment, ataxia and sensory loss. The severity, rate of progression and age of onset of the neuropathic symptoms was highly variable. Sensory symptoms tend to be most prominent in the hands and feet.
• Roussy Levy hereditary areflexic dystasia: An inherited ataxia (incoordination) involving muscle wasting, kyphoscoliosis and absence of tendon reflexes.
• Rubella panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• SPG: A group of neurodegenerative disorders involving progressive spasticity and increased reflexes in the legs. The rate of progression and severity is variable depending on the subtype involved.
• SSADH deficiency (succinic semialdehyde dehydrogenase deficiency): A rare inherited metabolic disorder where an enzyme deficiency (succinic semialdehyde dehydrogenase) prevents the normal metabolism of gamma-aminobutyric acid.
• Schroer-Hammer-Mauldin syndrome: A rare inherited disorder characterized by an eye abnormality, incoordination and short stature.
• Segawa syndrome, autosomal recessive: A very rare birth disorder characterized mainly by involuntary jerky movements that start during infancy. The disorder is caused by a genetic defect resulting in a deficiency of an enzyme called tyrosine hydroxylase. The disorder is usually treatable by administering low doses of L-DOPA medication.
• Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance: A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance.
• Sensory ataxia: It is a form of ataxia (loss of coordination) caused not by cerebellar dysfunction but by loss of sensory input into the control of movement
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
• Severe head injury: injury to the head due to external forces
• Shy- Drager syndrome: also known as multiple system atrophy
• Sialidosis type 1: A rare inherited condition where deficiency of an enzyme called neuraminidase results in epilepsy, ataxia and vision problems as well as characteristic cherry red spots in the macula of the eye. Symptoms may be exacerbated by factors such as smoking and menstrual cycles.
• Sialidosis type 1 and 3: A rare inherited biochemical disorder involving the deficiency of an enzyme (alpha-N-acetylneuraminidase) which results in the harmful accumulation of certain chemicals (sialyloligosaccharides and sialylglycopeptides) in various body tissues.
• Sialuria, Finnish type: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. This condition is an adult form of sialuria.
• Slowly Progressive Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive VE: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. . Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Spastic paraplegia 23: A rare disorder characterized mainly by progressive stiffness and weakness of the leg muscles, premature graying, characteristic facial appearance and a skin pigmentation anomaly. Pigmentation anomalies usually start from the age of 6 months and leg problems may be noticed around the middle of the first decade.
• Spastic paraplegia glaucoma precocious puberty: A rare syndrome characterized by premature puberty, mental retardation, glaucoma and progressive spastic paraplegia.
• Spinal Cord Tumor: Cancer of the spinal cord or central nervous system.
• Spinal conditions: Any condition that affects the spine
• Spine symptoms: Symptoms affecting the spine
• Spinocerebellar Ataxia: A condition characterised by a failure of muscle coordination due to pathology arising in the spinocerebellar tract of the spinal cord
• Spinocerebellar Ataxia 9: An inherited condition characterized by slowly progressive incoordination and speech and eye movement problems due to degeneration of part of the brain called the cerebellum.
• Spinocerebellar ataxia - amyotrophy - deafness: A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia 10: A rare genetic disorder (chromosome 22q13 defect) characterized by gait ataxia and dysarthria (speech disorder). The severity of the condition is variable with some patients becoming wheelchair dependent.
• Spinocerebellar ataxia 11: A rare genetic disorder (chromosome 15q14-21.3 defect) characterized by gait ataxia and dysarthria (speech disorder). This form of the condition progresses slowly and doesn't affect life expectancy.
• Spinocerebellar ataxia 12: A rare genetic disorder (chromosome 5q31-q33 defect) characterized by variable symptoms such as arm tremors, gait ataxia and dysarthria (speech disorder) with other.
• Spinocerebellar ataxia 13: A rare genetic disorder (chromosome 19 defect) characterized by progressive mental retardation. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 14: A rare genetic disorder (chromosome 19q13.4qter defect) characterized by gait ataxia, tremors and dysarthria (speech disorder). The condition progresses slowly.
• Spinocerebellar ataxia 15: A rare genetic disorder (chromosome 3p26-p25 defect) characterized by gait ataxia, eye movement problems and dysarthria (speech disorder). The condition tends to progress slowly over decades with most patients retaining the ability to walk.
• Spinocerebellar ataxia 16: A rare genetic disorder (chromosome 3p26.2-pter defect) characterized by gait ataxia, eye movement problems, tremor and dysarthria (speech disorder). The progression of the condition is variable (1-40 years).
• Spinocerebellar ataxia 17: A rare genetic disorder (chromosome 6q27 defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 18: A rare genetic disorder (chromosome 7q22-31 defect) characterized by muscle atrophy and sensory loss. The severity of symptoms is variable. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 20: A rare genetic disorder (chromosome 11 defect) characterized by palatal tremor and dysphonia. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 21: A rare genetic disorder (chromosome 7p21.3-p15.1 defect) characterized by extrapyramidal features and cognitive impairment. The condition progresses slowly over decades. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 22: A rare genetic disorder (chromosome defect) characterized by ataxia, eye movement problems and dysarthria (speech disorder). The condition progresses slowly over decades.
• Spinocerebellar ataxia 23: A rare genetic disorder (chromosome 20p13-12.3 defect) characterized by ataxia, sensory loss and pyramidal signs. It is a slowly progressing condition.
• Spinocerebellar ataxia 25: A rare genetic disorder (chromosome 2p15-p21 defect) characterized by sensory neuropathy and damage to the motor control part of the brain (cerebellar atrophy) resulting in ataxia. It is a slow progressing condition.
• Spinocerebellar ataxia 26: A rare genetic disorder (chromosome 19p13.3 defect) characterized by slowly progressive ataxia and dysarthria (speech disorder).
• Spinocerebellar ataxia 27: A rare genetic disorder (chromosome FGF14; 13q34 defect) characterized by tremors, dyskinesia and psychiatric episodes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 28: A rare genetic disorder (chromosome 18p11 defect) characterized by eye muscle paralysis (ophthalmoplegia) and increased reflexes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 29: A form of ataxia which starts from birth but is nonprogressive. The severity of symptoms may vary amongst patients.
• Spinocerebellar ataxia 3: A rare genetic disorder (chromosome 14q32.1defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types. The duration of the disease is 1-20 years.
• Spinocerebellar ataxia 5: A genetic disorder involving progressive degeneration of the spinal cord resulting in symptoms such as incoordination and eye movement problems.
• Spinocerebellar ataxia 8: A rare genetic disorder (chromosome 13q21 defect) characterized by horizontal nystagmus and mild sensory neuropathy. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia with axonal neuropathy, type 2: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
• Spinocerebellar ataxia, Machado-Joseph type I: A rare genetic disorder (chromosome 14q32.1defect) characterized by early onset of symptoms - ataxia, bulging eyes and extrapyramidal symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type II: A rare genetic disorder (chromosome 14q32.1defect) characterized by intermediate onset of symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type III: A rare genetic disorder (chromosome 14q32.1defect) characterized by later onset of symptoms such as weak eye muscles and peripheral neuropathy. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type IV: A rare genetic disorder (chromosome 14q32.1defect) characterized by late onset of symptoms - muscle twitching and Parkinsonism. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type V: A rare genetic disorder (chromosome 14q32.1defect) characterized by spastic paraparesis. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, X-linked, 2: A rare neurological disorder characterized mainly by ataxia, spasticity and early death.
• Spinocerebellar ataxia, X-linked, 3: A rare neurological disorder involving mainly ataxia and deafness which starts during infancy and progresses quite rapidly to result in childhood death.
• Spinocerebellar ataxia, X-linked, 4: A rare neurological disorder involving mainly ataxia and dementia which starts during adulthood. The condition is slowly progressive.
• Spinocerebellar ataxia, X-linked, type 4: A rare neurological disorder involving mainly ataxia and dementia which starts during adulthood. The condition is slowly progressive.
• Spinocerebellar ataxia, autosomal recessive 1: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
• Spinocerebellar ataxia, autosomal recessive 3: A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing.
• Spinocerebellar ataxia, autosomal recessive 4: A rare neurological disorder caused by a genetic defect (chromosome 1p36, recessive) and resulting in ataxia and eye movement problems.
• Spinocerebellar ataxia, autosomal recessive 5: A rare neurological disorder caused by a genetic defect (chromosome 15q24-q26, recessive) and resulting in ataxia, mental problems and a skin disorder. Symptoms start during infancy and more than half of the patients never gain the ability to walk.
• Spinocerebellar ataxia, autosomal recessive 6: A rare disorder that has neurological origins and causes nonprogressive ataxia, which begins during infancy.
• Spinocerebellar ataxia, autosomal recessive 7: A rare, recessively inherited neurological disorder caused by abnormalities in the cerebellum and spinal cord. The severity of the disorder is variable.
• Spinocerebellar ataxia, autosomal recessive 9: A rare, recessively inherited neurological disorder caused by abnormalities in the cerebellum and spinal cord. This particular form of the condition is caused by a defect in the CABC1 gene on chromosome 1q42.2.
• Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy: A rare neurological disorder caused by a genetic defect (chromosome 114q31-q32, recessive) and resulting in ataxia and dysarthria.
• Spinocerebellar degenerescence, book type: A very rare syndrome characterized by movement problems and mental retardation that originates from a brain defect.
• Spondyloepimetaphyseal dysplasia, genevieve type: A recessively inherited disorder characterized mainly by abnormal bone development (epiphyses, metaphyses and vertebrae) as well as mental retardation. The abnormalities become progressively worse with age.
• Stroke: Brain-related symptoms of bleeding or blockage.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Subacute sclerosing leukoencephalitis: A rare chronic form of brain inflammation that is associated with the measles virus. The patient usually appears to have a full recovery after the measles infection with symptoms developing usually between two and eight years after the infection. The condition tends to affect children and young adults mainly. The disease process involves the degeneration of the protective nerve sheaths (myelin) in the brain. Measles immunization is the most effective way of preventing the development of this complication of measles.
• Subependymoma: A tumor that develops from subependymal cells which line the central nervous system cavities and the walls of the ventricles of the brain. Symptoms may vary depending on the exact size and location of the tumor.
• Succinic Semialdehyde Dehydrogenase Deficiency: A condition which is characterized by a deficiency of succinic semialdehyde dehydrogenase
• Susac syndrome: A very rare characterized by poor blood supply resulting in damage to chochlear, retinal and brain tissue. It is results form inflammation of small blood vessels. Recurring attacks occur over a couple a couple of years and are months apart. The condition resolves itself eventually and the severity of persisting symptoms is variable.
• Telencephalic leukoencephalopathy: Neurological disease of the brain where the protective sheaths covering the nerves in the brains are destroyed or fail to develop properly.
• Thalamic degeneration symmetrical infantile: A very rare brain disorder characterized by abnormal brain development, seizures, respiratory distress and movement disorders.
• Thallium poisoning: The poisoning of a person with the element thallium
• Thoracic dysplasia - hydrocephalus syndrome: A very rare syndrome characterized by abnormal chest development and excess fluid inside the skull.
• Tick paralysis: Paralysis from Australian tick bites
• Tolterodine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Tome-Brune-Fardeau syndrome: A rare syndrome involving neurological impairment which manifests as movement disorders and dementia.
• Toxic mushrooms - Anticholinergic: Some mushrooms contain a toxic chemical called ibotenic acid which causes anticholinergic symptoms. Ibotenic acid is converted to muscimol during digestion. The two toxins have opposing actions which results in initial excitation symptoms followed by a prolonged coma-like sleep. Mushroom species from this group include certain species of Amanita sp. - cothurnata, crenulata, frostiana, gemmata, muscaria and pantherina. Eating two to four mushrooms can result in impaired senses and eating more than twenty usually results in death.
• Toxic mushrooms - Monomethylhydrazine: Some mushrooms contain a toxic chemical called gyromitrin which is converted to monomethylhydrazine after digestion. Mushroom species from this group include certain species of Gyromitra, Helvella, Sarcosphaera and Peziza. Poisoning may occur from inhaling fumes from cooking mushrooms. The amount of toxin varies amongst and within species but some are toxic enough to cause death. Urgent medical attention should be sought if mushroom poisoning is suspected.
• Toxic mushrooms - Psychedelic: Some mushrooms contain chemicals called psilocybin and psilocin which produce effects similar to LSD. Mushroom species from this group include certain species of Conocybe syanopus, Conocybe spectabilis, Gymnopilus, Panaeolus, Pluteus, Psilocybe and Stropharia. About five dried mushroom caps can result in hallucinations.
• Tranebjaerg-Svejgaard syndrome: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• Transient Ischemic Attack: temporary disturbance of blood supply to a restricted area of the brain, resulting in brief neurologic dysfunction that persists, by definition, for less than 24 hours.
• Transient ischemic attack: temporary disturbance of blood supply to a restricted area of the brain, resulting in brief neurologic dysfunction that persists, by definition, for less than 24 hours.
• Transthyretin amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the transthyretin form, the amyloid protein consists of transthretin. The condition is characterized by slo-progressing peripheral sensorimotor and autonomic neuropathy, kidney disease and heart disease. Abnormal amyloid deposits may also occur in the eyes and central nervous system. There are a number of subtypes of the disorder: familial oculoleptomeningeal amyloidosis, familial amyloid polyneuropathy and familial amyloid cardiomypathy as well as others. Neuropathic symptoms tend to start in the legs. Symptoms may vary depending on which parts of the body are affected.
• Transverse myelitis: Inflammation of the spinal cord which results in various neurological and muscle symptoms. The inflammation can occur for no obvious reason or may result from a virus, bacterial infection, autoimmune disease or vaccination. The type and severity of symptoms is determined by the location and degree of inflammation.
• Traumatic Brain Injury: Brain injury from trauma or accident.
• Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Tremor: The occurrence of involuntary trembling
• Triglyceride storage disease with impaired long-chain fatty acid oxidation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
• Trihydroxycholestanoylcoa oxidase isolated deficiency: A rare metabolic disorder where an enzyme (Trihydroxycholestanoyl-CoA oxidase) deficiency disturbs the formation of bile acids.
• Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• Unverricht-Lundborg disease: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
• Unverricht-Lundborg syndrome: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
• Variant Creutzfeldt-Jakob disease: The bovine spongiform encephalopathy affects cattle but the variant form can infect humans. Human infection can occur by consuming infected cattle products, especially the brain and other central nervous system tissues.
• Vertebral Artery Dissection: A tear that develops in the verebral artery and tends to result in a stroke. It is the most common cause of stroke in young people. Vertebral artery dissections can be caused by trauma to the neck, manipulation of the spine (chiropractics), high blood pressure or even blowing the nose in some cases.
• Vertigo, benign paroxysmal, in childhood: A rare harmless disorder in children which causes short periods of dizziness, nausea and involuntary eye movements.
• Vitamin B12 Deficiency: A deficiency of Vitamin B12 primarily causes anemias the body is unable to make sufficient quantities of normal red blood cells. Severe cases can lead to permanent nervous system problems. The vitamin B12 deficiency can result from absorption problems, insufficient dietary intake, certain medications (e.g. metformin), inherited conditions (e.g. transcobalamin deficiency) and certain chronic parasitic intestinal infestations.
• Vitamin E deficiency: Deficiency of Vitamin E
• Walking symptoms: Problems with walking.
• Wernicke's encephalopathy: Brain condition with various effects
• Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
• X-linked mental retardation - hypotonia: A very rare inherited disorder characterized primarily by mental retardation. Initial symptoms of muscle weakness gives way to spasticity and contractures.
• Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency
• Xeroderma pigmentosum, type 1: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation - type 1 has the lowest level of repair and the most neurological complications.
• Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.
• Zinc deficiency: When there is a deficiency of zinc in an individuals body

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