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Symptoms » Walking symptoms » Glossary

Glossary for Walking symptoms

Medical terms related to Walking symptoms or mentioned in this section include:

$2-Methylbutyric Aciduria$: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
$2-methylbutyryl-coenzyme A dehydrogenase deficiency$: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
Abnormal gait: An abnormal way of walking
Absence of tibia: The congenital absence of the tibial bone which is the shin bone. One or both shin bones may be missing.
Absence of tibia with polydactyly: The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers.
Achromatopsia: Patients who have achromatopsia (sometimes called achromatopia) do not have normal "cone vision.". Although the term may refer to acquired disorders such as color agnosia and cerebral achromatopsia, it typically refers to an autosomal recessive congenital color vision disorder, the inability to perceive color AND to achieve satisfactory visual acuity at high light levels (typically exterior daylight).
Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
Acoustic neuroma: A rare benign tumor that forms in the hearing canal. Can cause tinnitus, progressive hearing loss, headaches, facial numbness, papilledema, dizziness and an unsteady walk. Speaking and swallowing difficulty can occur in advanced stages. Also called acoustic neurilemoma, acoustic neurinoma and acoustic neurofibroma.
Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
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.
Adamantinoma: A very aggressive malignant cancer of the jaw. Also called ameloblastoma, adamantoblastoma or epithelioma adamantinum.
Adrenoleukodystrophy: A rare hereditary metabolic disease that only occurs in male children and is characterized by adrenal atrophy and extensive cerebral demyelination causing progressive loss of mental functioning, aphasia, apraxia and sometimes blindness. The patient usually dies within 5 years.
Adrenomyeloneuropathy: A form of X-linked adrenoleukodystrophy characterized by spinal cord dysfunction and brain involvement may or may not be present. Those with brain involvement suffer serious symptoms that can eventually lead to total disability and even death.
Adult-onset ALD: Form of ALD in adults.
African Sleeping sickness: A disease caused by parasites (Trypanosome brucei gamiense or T. brucei rodesiense) and transmitted to humans by the tsetse fly which is found only in Africa. Causes symptoms such as fever, chills, headache, anemia, edema of hands and feet, enlarged lymph glands, lethargy, sleepiness, convulsions and coma. Also called African trypanosomiasis and sleeping sickness.
Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
Alcohol - Teratogenic Agent: There is strong evidence to indicate that exposure to Alcohol 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.
Alcoholic Neuropathy: Neurological changes due to nerve damage from long-term alcohol consumption
Alexander Syndrome: Brain myelin disorder causing mental degeneration.
Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
Alopecia - hypogonadism - extrapyramidal disorder: A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty.
Alopecia, mental retardation and neurological problems: A rare, newly described syndrome characterized by baldness, mental retardation and neurological problems.
Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
Alternating Hemiplegia: Episodes of one-sided paralysis.
Alzheimer disease 3, (early-onset Alzheimer disease): Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
Amyotrophic lateral sclerosis: A degenerative motor neuron disease marked by weakness and wasting of the muscles which starts at the hands and legs and spreads to the rest of the body. Death occurs in 2 to 5 years. Also called Lou Gehrig's disease or wasting palsy.
Amyotrophic lateral sclerosis 2, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 2 is caused by a defect on chromosome 2q33.
Amyotrophic lateral sclerosis 4, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 4 is caused by a defect on chromosome 9q34.
Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
Andrade's syndrome: An inherited condition characterized by deposits of an abnormal protein called amyloid in various parts of the body including organs. The condition mainly involves neurological symptoms.
Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
Ankle conditions: Conditions that affect the ankle
Ankle injuries: Injury to the ankle
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.
Arnold Stickler Bourne syndrome: A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
Arteriosclerosis Obliterans: Arteriosclerosis that results in the narrowing and gradual blockage of the artery. Arteriosclerosis involves the deposition of cholesterol plaques and other material on the inside of the artery walls. The symptoms will depend on the location of the arteries affected and how severe the blockage is.
Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
Arthrogryposis-like disorder: A rare disorder characterized by joint contractures of the knees and ankles resulting in wasting or overgrowth of nearby muscles.
Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
Ataxia: Failure of muscular coordination
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 spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
Ataxia, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
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.
Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
Avascular necrosis of femoral head, familial form: A familial hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed.
BEEC: A rare syndrome characterized by a birth defect where the bladder is inside out and protrudes from the lower abdominal wall. The urethra and genitals are also abnormally formed. The degree of malformation is variable.
Back injuries: A term usually used to describe any musculoskeletal back injury - a common workplace occurrence.
Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
Balance disorders: Problems with balance or vertigo
Balance symptoms: Problems with balance or vertigo
Balo's concentric sclerosis: Demyelination of the brain producing a variety of symptoms depending on the area of the brain affected.
Barbiturate abuse: Abuse of barbiturate medications
Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
Binswanger's Disease: A type of senile dementia characterized by chronic cerebrovascular disease.
Bleeding Heart poisoning: Bleeding heart is a vine plant that can cause skin reactions on exposure and systemic symptoms such as convulsions if eaten. The leaves and roots are the most toxic parts of the plant and contain a toxic chemical called isoquinoline. Large amounts of the plant need to be eaten for poisoning to occur. The plant is native to North America.
Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
Brain Stem Neoplasms: A brain stem tumor. The tumor may be malignant or benign and the severity of the condition is determined by the size of the tumor and exact location.
Brain conditions: Medical conditions that affect the brain
Brain symptoms: Symptoms affecting the brain
Brain tumor, adult: A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant.
Broken foot: Fracture of one or more foot bones
Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
$CRMO, juvenile$: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
Calcification of basal ganglia with or without hypocalcemia: Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from asymptomatic to neurological, psychiatric and movement disorders. The disorder may also progress at variable rates or remain stable depending on the underlying disease process.
Camurat-Engelmann disease, type 2: A rare syndrome characterized by a range of abnormalities including waddling gait, muscle weakness, knee and hip contractures, delayed puberty and leg pain.
Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
Cardiomyopathy - hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
Cardiomyopathy - hearing loss, type tRNA-LYS gene mutation: A rare inherited condition characterized by the association of cardiomyopathy and deafness.
Central Core Disease: A disorder characterized mainly by muscle weakness from infancy.
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss: A rare syndrome characterized mainly by ataxia, absent reflexes, high foot arch (pes cavus), progressive optic nerve degeneration and hearing impairment. The ataxic symptoms tended to occur early in life after an illness involving fevers. The ataxia then tends to come and go but then persists into adulthood. The severity of symptoms is variable.
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, spastic, diplegic: Brain damage that involves muscle rigidity that occurs either in both arms or in both legs. The brain damage is often the result of a birth defect or some sort of trauma to the brain.
Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
Charcot-Marie-Tooth disease (generic term): A group of inherited neurological disorders characterized by problems with the peripheral nerves. Muscle weakness, muscle wasting and sensory problems are the most common symptoms. The severity and age of onset of symptoms varies depending on the specific subtype of the disorder.
Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 5 has an autosomal dominant inheritance, progresses slowly and involves movement disorders.
Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
Charcot-Marie-Tooth disease, Type 2AI: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and involves a defect in the KIF1B gene on chromosome 1p36.
Charcot-Marie-Tooth disease, Type 2AII: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A2 has an autosomal dominant inheritance and involves a defect in the MFN2 gene on chromosome 1p36.
Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.
Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.
Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.
Charcot-Marie-Tooth disease, Type 2G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2G has an autosomal dominant inheritance and involves a defect on chromosome 12.
Charcot-Marie-Tooth disease, Type 2H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2H has an autosomal recessive inheritance and involves a defect in the GDAP1 gene on chromosome 8.
Charcot-Marie-Tooth disease, Type 2I: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.
Charcot-Marie-Tooth disease, Type 2K: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.
Charcot-Marie-Tooth disease, Type 2L: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2L has an autosomal dominant inheritance and involves a defect in the HSPB8 gene on chromosome 12.
Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
Charcot-Marie-Tooth disease, Type 4B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the CMT4B2 gene on chromosome 11.
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of glaucoma which starts during childhood.
Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
Charcot-Marie-Tooth disease, type 2: A rare inherited disorder characterized by abnormalities in the axon of the peripheral nerve cells instead of the myelin sheath coating of the nerves. The condition manifests as muscle weakness and wasting that usually starts in the legs and spreads to the hands and other parts of the body. The severity, age of onset and rate of progression of the condition varies depending on the genetic origin of the defect.
Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
Chemical pneumonia: Lung inflammation from inhaled chemicals
Chemical poisoning - Cologne: Colognes contain chemicals such as ethanol and isopropanol which can cause symptoms if ingested or inhaled in excessive quantities. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
Chemical poisoning - Hair Bleach: Hair bleach contain chemicals which can cause serious symptoms if ingested. The chemicals in the hair bleach can continue to cause gastrointestinal damage for weeks after ingestion. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
Chemical poisoning - Hair Dye: Hair dyes contain chemicals which can cause serious symptoms if ingested. The chemicals in the hair dye can continue to cause damage for weeks after ingestion. Some dyes contain lead or mercury which can cause neurological problems even if low level exposure occurs over an extended period of time. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
Chorea: The occurrence of rapid, jerky, dyskinetic movements that are involuntary
Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
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 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Classic childhood ALD: Classic severe form of ALD in boys.
Coccyx injury: Injury to the coccyx (tailbone)
Cochleosaccular degeneration of the inner ear and progressive cataracts: A very rare syndrome characterized by cataracts and progressive damage of certain inner ear structures (cochlea and saccule) which results in progressive deafness and vision problems.
Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
Cognitive impairment: General loss of mental or cognitive ability
Congenital Disorder of Glycosylation, Type 1o: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1O has a defect in the DPM3 gene which results in decreased activity of an enzyme called dolichol-phosphage-mannose (Dol-P-M).
Congenital hypomyelination neuropathy: A rare neurological disorder that is apparent at birth and is characterized by breathing difficulty and muscle problems.
Congenital short femur: A birth defect where the thigh bone is abnormally short.
Corn Lily poisoning: Corn Lily is a poisonous plant native to the Sierra Nevada mountains. It's appearance is similar to the corn grown as a crop. The plant poison primarily affects the nervous system.
Corticobasal Degeneration: A rare progressive neurological disorder where parts of the brain deteriorate.
Coxa vara, congenital: A hip deformity present at birth and characterized by a reduced angle between the ball and shaft of the thigh bone.
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.
Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
Cruse Syndrome: A condition observed in four generations of one family. It is characterized by hearing impairment, trigeminal neuralgia and peripheral nervous system problems. The nature and severity of the symptoms vary amongst patients. Hearing loss usually starts between the fourth and sixth decade of life.
Cryptococcosis: A fungal infection caused by Cryptococcus neoformans which primarily affects the central nervous system and the lungs. People with weakened immune systems such as AIDS sufferers are generally more susceptible to this type of infection.
Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
Deep vein thrombosis: The formation of a thrombosis in the deep veins usually within the legs
Degenerative Disc Disease: Chronic or recurrent back and neck pain due to degeneration and occasionally prolapse of spinal discs.
Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
Dementia With Lewy Bodies: Second most frequent cause of dementia in elderly adults.
Demyelinating disorder: Any condition that is characterised by the destruction of the myelin sheaths of the nerves
Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
Diabetic Peripheral Neuropathy: Diabetic nerve damage affecting toes, feet, and sometimes hands.
Difficulty walking: Where ones has a problem with mobilizing on ones feet
Diomedi-Bernardi-Placidi syndrome: A very rare syndrome characterized mainly by epilepsy, mental retardation and progressive leg weakness and spasticity.
Distal Myopathy 1: An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs. There are three subtypes which are distinguished by the origin of the genetic defect. Type 1 is linked to a defect on chromosome 14q12. The disease progresses slowly and starts in the ends of the limbs but usually also involves the neck and eventually abdominal muscles.
Distal myopathy: An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs.
Distal myopathy, Markesbery-Griggs type: A very rare muscle disease which mainly affects the front of the lower leg.
Distal myopathy, Welander type: A very slowly progressing muscle fiber degeneration that starts as mild weakness in the small muscles of hands and feet and may eventually spread to neighboring muscles.
Drug abuse: Drug use as a symptom of other conditions
Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
Duplication of leg mirror foot: A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected.
Dyck Syndrome: A very rare condition observe in two brothers. It involves vision, hearing, muscle, sensory and adrenal system problems and an enlarged liver and spleen.
Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
Dystonia 12: A very rare syndrome involving the early start of symptoms of dystonia and parkinsonism. The onset of the symptoms usually occurs suddenly over weeks or even hours and then progresses slowly.
Dystonia 13, torsion: A rare genetic movement disorder. The muscles contract involuntarily causing repetitive twisting movements. Type 13 is caused by a genetic defect on chromosome 1p36.32-p36.13. Symptoms start in the upper body or arms and progresses to other parts of the body. The severity of the disorder is variable.
Dystonia 14: A rare genetic movement disorder. The muscles contract involuntarily causing involuntary movements. Type 14 is caused by a genetic defect on chromosome 14q13.
East African Trypanosomiasis: East African sleeping sickness from the tsetse fly
Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
Emery-Dreifuss Muscular Dystrophy 1: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 1 is linked to a defect on chromosome Xq28. Because the condition is inherited in a X-linked manner, males tend to be affected but female carriers may have only the potentially fatal heart conduction disorder without any muscle symptoms.
Emery-Dreifuss Muscular Dystrophy 2: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart conduction defects. Type 2 is linked to a defect on chromosome 1q21.2. Because the condition is inherited in an autosomal dominant manner so males and females may be affected.
Emery-Dreifuss Muscular Dystrophy 3: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures. Type 3 is linked to a defect on chromosome 1q21.2. Because the condition is inherited in an autosomal recessive manner so males and females may be affected. Type 3 tends to not have any heart involvement.
Emery-Dreifuss Muscular Dystrophy 4: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart problems. Type 4 is linked to a defect on chromosome 6q25. Because the condition is inherited in an autosomal dominant manner so males and females may be affected.
Emery-Dreifuss Muscular Dystrophy 5: A rare inherited condition characterized mainly by slowly progressive muscle wasting which tends to start during childhood as well as joint contractures and heart problems. Type 5 is linked to a defect on chromosome 14q23. Because the condition is inherited in an autosomal dominant manner so males and females may be affected.
Emery-Dreifuss Syndrome: An hereditary, slowly progressive muscular dystrophy which starts during childhood. The condition is marked by joint contractures and conduction disorders of the heart.
Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
Emery-Dreifuss muscular dystrophy, dominant type: A rare disorder characterized by slowly-progressing weakness and wasting of skeletal and heart muscles. The dominant form of the disease is associated with greater variability of symptoms.
Encephalitis: Infection of the brain (as a symptom)
Endodermal sinus tumor: A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen, thorax, tailbone region, vagina, liver, retroperitoneum and pineal ventricle of the brain. Symptoms will vary depending on the exact location of the tumor.
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.
Epiphyseal dysplasia, multiple: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. There are 6 different subtypes of the disease, with each caused by a mutation in a different gene.
Epiphyseal dysplasia, multiple, 1: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein.
Epiphyseal dysplasia, multiple, 3: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The knees and ankles are usually the most affected joints. Mild weakness of muscles in the upper arms and legs was also sometimes present. It is believed to be caused by a defect in the COL9A3 gene.
Erythrokeratodermia ataxia: A rare inherited condition characterized by skin and nervous system disorders
Erythrokeratodermia with ataxia: A rare syndrome characterized by the association of a skin disorder with slowly progressive neurological symptoms.
Extragonadal Germ Cell Tumor: A rare form of cancer that originates in germ cells that are found in areas such as the brain, chest, tailbone or abdomen rather than the ovaries or testicles. Germ cells are the precursors for male sperm and female eggs. The symptoms are determined by the location and size of the tumor.
Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
Fairbank disease: A rare inherited disorder that affects the secondary growth centers of bones usually in the hips, knees and ankles and results in mild dwarfism.
Falls: Recurrent unintentional falls
Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
Fibular dimelia - diplopodia: A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected.
Filaminopathy, autosomal dominant: A rare dominantly inherited muscle disease characterized slow-progressing muscle weakness. The upper legs seemed to be the most affected with the arms being less involved.
Foot conditions: Any condition that may affect the foot
Foot sprain: Damage to ligaments in the foot.
Friedreich's ataxia: Progressive muscle weakness from nerve damage.
Gait abnormality: Where a person has an abnormality of the usual walking gait
Gait disturbances: disturbances in the normal gait pattern
Genetic Parkinson disease: A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease.
Giant axonal neuropathy: A rare genetic disorder characterized by incoordination, vision problems and dementia caused by abnormalities of a nerve cell component.
Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
Gräsbeck-Imerslund disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
Hallux Rigidus: A stiff big toe and loss of it's mobility due to degenerative arthritis at the base joint of the big toe. It usually occurs between the ages of 30 and 60 years.
Hallux limitus: The early stages of toe stiffness due to degenerative arthritis of the base of the big toe. As the condition progresses and the toe becomes totally immobile and the condition is then called hallux rigidus.
Head symptoms: Symptoms affecting the head or brain
Hemihypertrophy in context of NF: Enlargement of one side of the body that frequently occurs in sufferers of neurofibromatosis.
Hereditary Spastic Paraplegia: A slow-progressing degeneration of the tract that connects the brain to the spinal cord (corticospinal tract) resulting in muscle spasticity, weakness and paralysis. The severity of symptoms is determined by the nature and extent of the damage.
Hereditary ataxia: Ataxia may depend on hereditary disorders consisting of degeneration of the cerebellum and/or of the spine
Hereditary neuropathy with liability to pressure palsies: A rare disorder where the peripheral nerves are more sensitive to pressure than normal which results in recurring periods of numbness, tingling and sometimes loss of muscle function. The condition can affect one or more nerves such as the carpal tunnel nerve. Permanent damage to peripheral nerves can result from recurring episodes. The severity of symptoms are greatly variable from virtually asymptomatic to disability.
Hereditary sensory and autonomic neuropathy 3: A very rare inherited disorder affecting the peripheral and autonomic nervous system and characterized by reduced tear production, excessive sweating, poor body temperature control, blood pressure problems, impaired sensation and poor muscle control.
Herniated disc: A misaligned or "slipped" disc in the spine.
Hip Replacement: The replacement of a hip with an synthetic joint
Hip conditions: Any condition that affects the hip
Hip dysplasia - enchondromata - ecchondromata: A very rare condition characterized by pelvic anomalies and multiple bone tumors.
Hip injury: Any injury that affects the hip
Hip luxation: Hip dislocation - the ball of the hip joint comes out of the socket.
Hip sprain: Damage to ligaments in the hip.
Hip subluxation: Partial dislocation of the hip - the ball of the hip joint is only partially in the socket.
Hip symptoms: Symptoms affecting the hip joint.
Huntington's disease: Inherited disease causing progressive mental deterioration.
Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
Idiopathic Parkinson's disease: Idiopathic Parkinson's disease is Parkinson's disease for which no particular cause can be determined - it is the most prevalent form of the condition. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Imerslünd-Grasbeck Syndrome: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
Inborn errors of thyroid hormone synthesis related to hypothyroidism: Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia: An inherited muscle wasting disorder associated with dementia and bone 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 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.
Intracranial 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 brain. The type and severity of symptoms is determined by the size and location of the cyst.
Intrinsic factor, congenital deficiency of: A very rare disorder where a deficiency of a protein called intrinsic factor prevents vitamin B12 from being absorbed from the stomach. Thus, vitamin B12 deficiency occurs which leads to anemia.
Ischio-spinal dysostosis: A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart functioning.
Ischio-vertebral dysplasia: A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart functioning.
Ischio-vertebral syndrome: A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart functioning.
Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
Joint injury - ankle: An injury to the ankle which is the joint between the foot and lower leg. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. An ankle injury can involve damage to the bones, ligaments or other tissues of the joint. The injury may be acute (e.g. trauma) or chronic (e.g. overuse).
Joint injury - hip: An injury to the knee which is the joint at the uppermost part of the leg. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A hip injury can involve damage to the bones, ligaments or other tissues of the joint. The injury may be acute (e.g. trauma) or chronic (e.g. overuse).
Joint injury - knee: An injury to the knee which is the joint between the upper and lower leg. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A knee injury can involve damage to the bones, ligaments or other tissues of the joint. The injury may be acute (e.g. trauma) or chronic (e.g. overuse).
Joint pain: Pain affecting the joints
Juberg-Marsidi syndrome: A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.
Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
Juvenile Rheumatoid Arthritis: Chronic arthritis affecting children and teens
Juvenile idiopathic arthritis: A group of chronic inflammatory joint disorders that affects children. The condition generally involves periods of time where the condition is active followed by periods of abatement of symptoms. In some cases, the condition can be systemic and can cause symptoms such as fever and rash with organ involvement. There are three main types of juvenile idiopathic arthritis - oligoarticular, polyarticular and systemic (Still's disease).
Juvenile idiopathic arthritis, unclassified: A chronic inflammatory joint condition affecting children. This particular subtype is defined as unclassified as it doesn't fit into any of the other classifications.
Juvenile osteoporosis: Osteoporosis (progressive bone loss) that occurs in children. Osteoporosis in children can be caused by certain medical conditions (e.g. diabetes, malabsorption syndromes, kidney disease, hyperthyroidism), certain medications (e.g. corticosteroids, anticonvulsants), prolonged immobility or sometimes for no detectable reason (idiopathic).
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.
Juvenile primary lateral sclerosis: A very rare genetic disorder characterized by increasing weakness and stiffness of the muscles in the arms, legs and face due to damage to nerve cells that control motor movement.
Knee conditions: Any condition that affects the knee
Knee sprain: Damage to ligaments in the knee.
Knee tendinitis: Inflammation of the tendons of the knee joint.
Kohler disease: A rare disorder where the foot becomes sore, swollen and difficult to walk on due to damage to midfoot bone (navicular bone). The cause is unknown.
Koller syndrome: A rare syndrome involving thickened bones and dry skin with characteristic fish-like scales.
L1 Syndrome: L1 Syndrome refers to range of disorders characterized by stiff muscles (spasticity) in the legs, reduced intelligence, excessive fluid in the brain (hydrocephalus) and abnormally bent thumbs. The range and severity of symptoms is highly variable. Disorders which varying forms of L1 Syndrome includes MASA syndrome, X-linked Corpus Callosum agenesis and X-linked Mental Retardation Complicated Hereditary Spastic Paraplegia type 1. The condition tends to produce mild if any symptoms in females in nearly all cases.
Labrynthitis: Inner ear condition affecting various ear structures
Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
Leg Duplication - Mirror Foot: A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected.
Leg conditions: Conditions that affect ones leg
Leg pain on walking: When a person experiences pain in their legs on walking
Leg symptoms: Symptoms affecting the leg
Legg-Calve-Perthes disease: Femur/hip bone disease mostly in children
Legg-Calvé-Perthes syndrome: A hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed.
Leri Pleonosteosis: A ver rare inherited disorder involving skeletal malformations, short stature and flat facial features.
Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
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.
Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the gamma-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
Limb-girdle muscular dystrophy type 2D: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the alpha-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
Limb-girdle muscular dystrophy type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
Limb-girdle muscular dystrophy type 2F: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the delta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
Limb-girdle muscular dystrophy type 2H: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein.
Limping: Walking with a limp or other gait problem
Lindsay-Burn syndrome: A very rare syndrome characterized mainly by mental retardation, psychosis and enlarged testes.
MASA Syndrome: A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature.
MN1: A rare genetic defect that can cause meningiomas to develop. A meningioma is a tumor of the meninges which is a membrane that encloses the brain and spinal cord The genetic defect occurs on chromosome 22. The tumor is usually slow-growing and benign.
Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
Malignant fibrous histiocytoma: A type of malignant cancers that develops in fibrous support tissue or bone. Symptoms will depend on the exact location of the tumor. Tumors most often occur in the extremities but can occur in just about any part of the body.
Malignant germ cell tumor: Malignant tumors that are made up of germ cells which are immature cells that eventually become reproductive system tissues in males and females. The symptoms depend on the location of the tumor which may occur in the ovaries, testes or anywhere along the body's midline such as the chest, head, abdomen, pelvis and lower back.
Megaloblastic Anemia 1: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
Melanoma - astrocytoma syndrome: A rare syndrome characterized by the association of a melanoma with a type of brain tumor called an astrocytoma. The exact symptoms may vary depending on the exact location of the brain tumor.
Melnick-Needles syndrome: A rare genetic bone disorder characterized by skeletal abnormalities and characteristic facial abnormalities.
Mental retardation - coloboma - slimness: A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build.
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, X-linked, 59: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the sigma-2 subunit of the adaptor protein-1 gene on chromosome Xp22. Mental retardation ranged from mild to severe.
Mental retardation, X-linked, Cabezas type: A rare X-linked disorder characterized by mental retardation, muscle wasting, short stature and other problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
Mental retardation, X-linked, Zorick type: A rare disorder characterized by mental retardation and muscle disease. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
Mesomelic dysplasia, Camera type: A rare inherited skeletal disorder characterized mainly by short forearm bones and a hip defect as well as some facial feature anomalies.
Metaphyseal chondrodysplasia Schmid type: A rare genetic disorder characterized by short stature, bowed lower leg bones and other skeletal abnormalities.
Methylene tetrahydrofolate reductase deficiency: A inborn error of metabolism where an inherited deficiency of methylene tetrahydrofolate reductase causes symptoms of ranging severity - from asymptomatic to severe neurological degeneration and premature death.
Minamata disease: Ingestion of seafood containing methylmercury can result in neurological toxicity symptoms.
Mitochondrial Parkinson's disease: A form of Parkinson's disease that seems to be linked to mitochondrial defects - mitochondria are the energy-producing components of body cells. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
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.
Miyoshi myopathy: A rare genetic condition characterized by slow-progressing muscle weakness and atrophy that starts in the calves and progresses to the rest of the legs and arms. Occasionally the hips and shoulders may be affected but the heart and facial muscles are spared.
Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
Motor and Sensory Neuropathy with Sensorineural Hearing Loss, Bouldin type: A rare condition observed in two sibling and characterized by hearing loss during adulthood and motor and sensory neuropathy.
Motor and Sensory Neuropathy, Optic Atrophy and Sensorineural Hearing Loss: A very rare inherited condition characterized by vision and hearing impairment and muscle and sensory problems. Hearing impairment is progressive and usually starts in early childhood.
Motor neuron diseases: Any of various disorders of the "motor neurons", nerves that control movement.
Mousa-Al Din-Al Nassar syndrome: A very rare syndrome characterized mainly by ataxia, spasticity and eye anomalies.
Movement symptoms: Changes to movement or motor abilities
MoyaMoya disease 1: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 1 is caused by a genetic defect on chromosome 3p26-p24.2.
MoyaMoya disease 2: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 2 is caused by a genetic defect on chromosome 17q25.
MoyaMoya disease 3: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 3 is caused by a genetic defect on chromosome 8q23.
Moyamoya Syndrome: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia).
Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
Multiple Sclerosis, Susceptibility To, 1: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 1 is linked to a defect on chromosome 6p21.3.
Multiple Sclerosis, Susceptibility To, 2: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 2 is linked to a defect on chromosome 10p15.1.
Multiple Sclerosis, Susceptibility To, 3: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 3 is linked to a defect on chromosome 5p13.2.
Multiple Sclerosis, Susceptibility To, 4: Multiple sclerosis is a nerve or spinal cord disease that causes random damage to parts of the nervous system. The result is a diverse range of possible symptoms depending on which parts of the cord are damaged, and how often the inflammation reoccurs. Typical symptoms are any kind of tingling, numbness, burning sensations, "pins-and-needles" or other types of sensory changes in various parts of the body. Researchers have discovered that some forms of multiple sclerosis are linked to a genetic defect. Type 4 is linked to a defect on chromosome 1p36.
Multiple epiphyseal dysplasia: A rare genetic disorder characterized by short stature and limb, joint and hip abnormalities which become evident from two to 10 years.
Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
Multiple system atrophy: A rare disorder where nerve degeneration causes progressive neurological problems involving the central and autonomic nervous system. The rate of progression is variable.
Muscle conditions: Any condition that affects the muscles of the body
Muscle symptoms: Symptoms affecting the muscles of the body
Muscular Dystrophy: Any of various muscle wasting diseases
Muscular Dystrophy, Limb-Girdle, Type 3: An inherited muscle disease affecting mainly the upper leg muscles. The upper arm muscles may or may not be affected. The extent and degree of muscle involvement is variable. The condition progresses slowly with independent mobility lost after a few decades of onset.
Muscular dystrophy, Duchenne and Becker type: An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
Muscular dystrophy, limb-girdle, autosomal recessive, type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
Muscular dystrophy, limb-girdle, autosomal recessive, type 2H: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein.
Muscular dystrophy, limb-girdle, autosomal recessive, type 2K: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations in the gene for O-mannosyltransferase-1.
Myasthenia Gravis with Thymus Hyperplasia: Myasthenia gravis is an autoimmune neuromuscular disease which is often associated with an abnormal thymus. The relationship between the thymus and myasthenia is not fully understood but as the thymus is involved in the body's immune system, it may trigger the immune system abnormality underlying some cases of myasthenia gravis.
Myasthenia, Limb-Girdle, with Tubular Aggregates: A neuromuscular disease affecting the limb-girdle muscles primarily. The condition is distinguished by the presence of abnormal tubular aggregates in the muscle tissue and the absence of weakness in the eye and eyelid muscles which is a usually a symptom of myasthenia gravis.
Myoclonus: Contraction of a single muscle or muscle groups.
Myopathy, Distal 3: An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs. There are three subtypes which are distinguished by the origin of the genetic defect. Type 3 is linked to a defect on chromosome 8p22-q11.
Myopathy, X-linked with postural muscle atrophy: An inherited, adult-onset muscle disease where the postural muscles become progressively weak and wasted while other muscles become enlarged. During early adulthood, patients tend to have an athletic build and muscle symptoms tend to start during the fourth decade of life. Death usually occurred between the ages of 40 and 75 years of age due to involvement of the heart.
Navajo neurohepatopathy: A rare genetic disease found in Navajo populations. It involves peripheral nerve degeneration, liver disease and corneal ulcers. The genetic disease is believed to be caused by maternal exposure to uranium from waters contaminated by old mines.
Nemaline myopathy 1: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 1 is caused by a defect on the tropomyosin 3 gene on chromosome 1q22.
Nemaline myopathy 2: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 2 is caused by a defect on the nebulin gene on chromosome 2q22.
Nemaline myopathy 3: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 3 is caused by a defect on the alpha-actin gene.
Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
Nemaline myopathy 5: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 5 is caused by a defect on the Troponin T1 gene on chromosome 19q13.4.
Nemaline myopathy 6: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 6 is caused by a defect on chromosome 15q. Type 4 was slowly progressive but wheelchair dependency does not eventuate.
Nemaline myopathy 7: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 7 is caused by a defect on the cofilin-2 gene.
Nerve conditions: Any condition that affects the nerves
Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.
Nerve symptoms: Symptoms affecting the nerves
Neuroaxonal dystrophy - renal tubular acidosis: A very rare syndrome characterized mainly by muscle and kidney abnormalities.
Neurofibrosarcoma: A rare type of tumor that develops from cells that provide a protective layer around nerves (nerve sheath). Symptoms are determined by the size and location of the tumor. The arms and legs are most commonly affected.
Neuropathy sensory spastic paraplegia: A very rare syndrome characterized mainly by sensory nerve degeneration and spastic paraplegia. The extremities of the hands and feet have reduced pain sensation and disfiguring ulcers tend to develop.
Neuropathy, distal hereditary motor: An inherited group of neuromuscular disorders that affects the nerve cells in the spinal cord and causes weakness and wasting of the muscles in the hands and feet. The condition is generally progressive but the rate is variable. The muscles only are affected and there is no sensory impairment.
Neuropathy, distal hereditary motor, Jerash type: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment.
Neuropathy, distal hereditary motor, type VIIA: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs and vocal cord paralysis. There is no sensory impairment.
Neuropathy, hereditary motor and sensory, LOM type: A severe form of Charcot-Marie-Tooth disease which involves the loss of the protective covering around nerves resulting in various nerve problems. Muscle weakness and wasting and sensory loss is more severe in the ends of the arms and legs.
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.
Normal Pressure Hydrocephalus: A block in the flow of cerebrospinal fluid in the brain, causing enlarged ventricles and brain atrophy.
Norrie syndrome: A rare form of blindness that occurs at birth or soon after due to eye defects. The severity and range of symptoms is variable.
Observation hip syndrome: A transient disorder that affects children and teenagers and involves hip problems which tend to resolve within weeks. It is believed to be due to inflammation of the hip caused by injury or infection.
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 I: A disorder where degeneration of certain parts of the brain and spinal cord and results in symptoms such as muscle problems, chorea and speech disturbance.
Opsoclonus Myoclonus: Condition with involuntary muscle and eye movement.
Ossification of the posterior longitudinal ligament of the spine: Abnormal calcification of a spinal ligament. The progressive calcification can starts within months of birth and affects the ability to move arms and legs. The severity of the condition is highly variable with most patients noticing symptoms in the sixth decade.
Osteoarthritis: A form of degenerative arthritis due to chronic degeneration
Osteoarthritis, Hip: A common degenerative hip joint disorder that tends to affect older people. The main symptom is pain.
Osteochondritis Dissecans: A rare condition caused by an interruption of the blood supply to section of bone in a joint which can result in a piece of bone breaking off and causing pain. The knee is most often affected but it can occur in ankles and elbows.
Osteochondrosis: A disease that is affects the growth ossification centres in children
Osteomalacia: Softening of bones caused by a vitamin D deficiency.
Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
Ovarioleukodystrophy: A rare syndrome characterized by ovarian failure and degeneration of the brain white matter which causes mental and motor problems.
Paget disease juvenile type: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
Paget's disease, type 1: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.
Paget's disease, type 4: A rare disorder involving pigmentation and vascular abnormalities. The lesions usually involve large areas of the body and the pigmentation color can include pink, bluish and brown.
Pallidopyramidal syndrome: A rare disorder characterized by pyramidal signs and parkinsonism caused by a degeneration of the pyramidal tract and the part of the brain called the pallidum.
Palmoplantar Psoriasis: Psoriasis is a chronic skin condition characterized by scaling and inflammation of the skin which can occur on virtually any part of the body. Palmoplantar psoriasis refers to psoriasis that develops on the palms of the hands and soles of the feet.
Parastremmatic dwarfism: A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones.
Parkinson disease 10 (PARK10): Type 10 Parkinson disease is linked to a genetic mutation on chromosome 1p32. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 11 (PARK11): Type 11 Parkinson disease is linked to a genetic mutation on chromosome 2q21.2. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 12 (PARK12): Type 12 Parkinson disease is linked to a genetic mutation on chromosome Xq21-q25. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 13 (PARK13): Type 13 Parkinson disease is linked to a genetic mutation on chromosome 2p12. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 2, autosomal recessive juvenile (PARK2): Type 2 Parkinson disease is juvenile form of the condition and is linked to a genetic mutation on chromosome 6q25.2-q27. The condition may be inherited in a recessive manner and symptoms tend to be milder following sleep. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 3, autosomal dominant Lewy body (PARK3): Type 3 Parkinson disease is linked to a genetic mutation on chromosome 2p13. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 4, autosomal dominant Lewy body (PARK4): Type 4 Parkinson disease is linked to a genetic mutation on chromosome 4q21. This form of the condition tends to start around the age of 45 years and progresses rapidly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 5 (PARK5): Type 5 Parkinson disease is linked to a genetic mutation on chromosome 4p14. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 6, autosomal recessive early-onset (PARK6): Type 6 Parkinson disease is an early-onset form of the condition and is linked to a genetic mutation on the PINK1 gene on chromosome 1p36. The condition may be inherited in a recessive manner and symptoms tend to fluctuate during the day. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 7, autosomal recessive early-onset (PARK7): Type 7 Parkinson disease is linked to a genetic mutation in the DJ1 gene on chromosome 1p36. This form of the condition tends to start before the age of 40 years and progresses slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 8 (PARK8): Type 8 Parkinson disease is linked to a genetic mutation on chromosome 1p32. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease 9 (PARK9): Type 9 Parkinson disease is linked to a mutation in the ATP13A2 gene on chromosome 1p36. This condition progresses rapidly and usually starts during the second decade of life. Dementia, eye movement problems and wasting of the brain tissue occur in addition to the typical symptoms of Parkinson's disease. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease, familial, type 1 (PARK1): Type 1 familial Parkinson disease is linked to a genetic mutation on chromosome 4q21. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
Parkinson disease, genetic types: A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease.
Parkinson disease, juvenile, autosomal recessive: A rare form of Parkinson disease that tends to occur by the age of 40 and is inherited in a recessive manner. Symptoms tend to be more severe during the day rather than the night.
Parkinson's Disease: Degenerative brain condition characterised by tremor.
Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
Pelvic fracture: A fracture in the bone of the pelvis
Peripheral neuropathy: Any loss in the function of the peripheral nervous system
Pes planus: A collapse of the arch of the foot, leading to a flattening of the feet.
Pili torti - developmental delay - neurological abnormalities: A very rare syndrome characterized mainly by developmental delay, twisted hair shafts and neurological symptoms.
Pinealoma: A slow-growing type of brain tumor that occurs in the pineal gland. The pineal gland produces a hormone called melatonin which is involved in regulating sleep patterns.
Polyneuritis: Widespared inflammation of nerves
Polyneuropathy - Ophthalmoplegia - Leukoencehalopathy - Intestinal Pseudo-Obstruction: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
Polyneuropathy - mental retardation - acromicria - premature menopause: A very rare syndrome characterized mainly by premature menopause, sensory impairment, mental retardation and small, delicate facial bones.
Polyradiculoneuropathy: An inflammatory disorder that affects the peripheral nerves and the spinal nerve roots. The onset and progression of the disease is variable with severe cases resulting in premature death. The condition is chronic and progressive but periodic relapses can occur.
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.
Postoperative hip fracture: The fracture of a hip after an operation
Powell-Venencie-Gordon syndrome: A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
Primary Lateral Sclerosis: A neurological disorder involving the upper motor nerves and causing progressive muscle weakness in the extremities and facial area. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons.
Primary Parkinsonism: A type of Parkinson disease that results from a genetic anomaly. There are a more than ten different genes that can cause Parkinson disease.
Primary dystonia: Dystonia is a neurological movement disorder where the muscle contract involuntarily and cause abnormal postures or repetitive, twisting movements. In primary dystonia the condition is the result of a genetic defect and there are no other symptoms other than the movement problems. The age of onset and severity of symptoms is variable with some cases being of a progressive nature which can lead to severe disability.
Primary lateral sclerosis, adult: A rare adult-onset genetic disorder characterized by increasing weakness and stiffness of the limb muscles due to damage to nerve cells that control motor movement.
Prion diseases: Various diseases caused by abnormal proteins (prions) in the brain.
Progressive Supranuclear Palsy: A disorder characterized by reduced motor control, dementia and eye movement problems.
Prolidase deficiency: A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.
Prostate Cancer: Cancer of the prostate.
Proximal spinal muscular atrophy, type 3: A rare inherited disorder where motor neuron degeneration causes progressive muscle weakness and atrophy. The proximal muscles tend to be more affected than the distal ones and the legs tend to be more affected than the arms.
Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
Radioulnar synostosis mental retardation hypotonia: A very rare syndrome involving mental retardation, reduced muscle tone and fusion of the forearm bones.
Respiratory acidosis: respiratory acidosis is acidosis (abnormally increased acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration
Rett's syndrome: Autism-like behavioral syndrome in infant girls
Rickets: A condition that affects the bones due to vitamin D deficiency
Roussy Levy hereditary areflexic dystasia: An inherited ataxia (incoordination) involving muscle wasting, kyphoscoliosis and absence of tendon reflexes.
Roussy-Lévy hereditary areflexic dystasia: An inherited ataxia (incoordination) involving muscle wasting, kyphoscoliosis and absence of tendon reflexes.
Rowley-Rosenberg syndrome: A rare disorder characterized by very short stature, cor-pulmonale (failure of the right side of the heart) and excess amino acids in the urine due to kidney dysfunction.
Roy-Maroteaux-Kremp syndrome: A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia.
Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
Ruptured achilles tendon: Rupture (break) in the achilles tendon
SBCAD deficiency: A very rare genetic disorder where an enzyme deficiency prevents the break down of certain proteins into energy and results in a harmful accumulation of acids in the blood and body tissues. More specifically, there is a deficiency of an enzyme (2-methylbutyryl-coenzyme A dehydrogenase) needed to convert the amino acid isoleucine into energy. 2-methylbutyrylglycine levels build up in the body and may cause damage. Symptoms vary according to the degree of enzyme deficiency - can range from asymptomatic to life-threatening.
Sacroilitis: Inflammation of the sacral joint
Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
Sallis-Beighton syndrome: A rare inherited syndrome characterized mainly by hand and foot abnormalities.
Sarcoglycanopathy: A form of limb-girdle muscular dystrophy involving abnormalities of the sarcoglycan protein which results in progressive muscle weakness. The severity is greatly variably from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
Satoyoshi syndrome: A very rare syndrome characterized by alopecia, diarrhea, skeletal abnormalities and painful leg cramps caused by physical exercise or emotional stress.
Scapuloperoneal Syndrome: A rare inherited condition characterized by progressive muscle wasting and weakness which involves mainly the shoulder and ankle muscles. Facial muscles may develop mild symptoms in later stages of the disorder. Subtypes of the condition may be caused by muscle or nerve disease.
Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
Scissors gait: A condition which is characterized by a gait that appears like scissors usually is due to spastic paraplegia
Scoliosis, Idiopathic, Susceptibility to, 1: Scoliosis is a curvature of the spine that is greater than 10 degrees. Idiopathic means that there is no discernable cause for the condition. Researchers have discovered a number of genes linked to an increased susceptibility to developing scoliosis. Type 1 is linked to a gene on chromosome 19p13.3.
Scoliosis, Idiopathic, Susceptibility to, 2: Scoliosis is a curvature of the spine that is greater than 10 degrees. Idiopathic means that there is no discernable cause for the condition. Researchers have discovered a number of genes linked to an increased susceptibility to developing scoliosis. Type 2 is linked to a gene on chromosome 17p11.2.
Scoliosis, Idiopathic, Susceptibility to, 3: Scoliosis is a curvature of the spine that is greater than 10 degrees. Idiopathic means that there is no discernable cause for the condition. Researchers have discovered a number of genes linked to an increased susceptibility to developing scoliosis. Type 3 is linked to a gene on chromosome 8q12.1.
Scoliosis, Idiopathic, Susceptibility to, 4: Scoliosis is a curvature of the spine that is greater than 10 degrees. Idiopathic means that there is no discernable cause for the condition. Researchers have discovered a number of genes linked to an increased susceptibility to developing scoliosis. Type 4 is linked to a gene on chromosome 9q31.2-q34.2.
Scoliosis, Idiopathic, Susceptibility to, 5: Scoliosis is a curvature of the spine that is greater than 10 degrees. Idiopathic means that there is no discernable cause for the condition. Researchers have discovered a number of genes linked to an increased susceptibility to developing scoliosis. Type 5 is linked to a gene on chromosome 17q25.3.
Segawa Syndrome: A disorder characterized by dystonia of the lower limbs which becomes worse towards nighttime. The condition usually starts during childhood.
Selective Vitamin B12 malabsorption with Proteinuria: A rare genetic blood disorder where a defect in the vitamin B12 receptor means that it can't be absorbed from food during digestion. As a result of the low vitamin B12 levels, the body produces increased numbers of abnormal enlarged red blood cells (megaloblasts).
Sensations: Changes to sensations or the senses
Shuffling gait: The occurrence of a gait which is shuffling in nature
Shuffling walk:
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.
Slipped epiphysis: Slippage of joint cartilage at the hip joint
Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
Spastic Paraplegia 18, Autosomal Recessive: A rare genetic disorder characterized mainly by weakness and spasticity in the legs. Various other anomalies are also often present. Type 18 is linked to a defect on chromosome 8p12-p11.21.
Spastic Paraplegia 42, Autosomal Dominant: A rare disorder characterized mainly by muscle wasting and weakness in the legs.
Spastic gait: A gait in which it appears the legs are held together and the toes and feet dragged one moving
Spastic paraparesis: A rare disorder where parts of the body develop spasticity and weakness. Usually the limbs are involved. The disorder is usually an inherited condition.
Spastic paraparesis deafness: A syndrome that is characterized with spastic paraparesis and deafness.
Spastic paraplegia 10, autosomal dominant: An extremely mild form of lower leg spasticity and weakness. Most sufferers are have symptoms so mild they go unnoticed.
Spastic paraplegia 14, autosomal recessive: A rare genetic disorder characterized mainly by lower leg spasticity and mild mental retardation.
Spastic paraplegia 17: A rare syndrome characterized by progressive weakness and wasting mainly in the hands and feet.
Spastic paraplegia 2, X-linked: A very rare genetic disorder characterized by lower leg spasticity and weakness. It has an early onset, progresses slowly and eventually the brain becomes involved as well which produces sensory, speech and eye problems.
Spastic paraplegia 20, autosomal recessive: A rare disorder characterized mainly by progressive stiffness, weakness and wasting of the lower leg muscles. The thumb muscle and speech is also affected.
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 26, autosomal recessive: A rare genetic disorder characterized mainly by progressive weakness of the lower legs. The condition also involves herniation of spinal discs.
Spastic paraplegia 3, autosomal dominant: A an early onset, very slow progressing form of spastic paraplegia which involves lower leg spasticity and weakness.
Spastic paraplegia 31, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
Spastic paraplegia 32, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
Spastic paraplegia 33, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
Spastic paraplegia 39, autosomal recessive: A recessively inherited neurological disorder which causes progressive spastic paraplegia and wasting of the hand and foot muscles. Type 39 is linked to a defect in the NTE gene.
Spastic paraplegia 4, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles. The severity of the condition is very variable as is the age of onset.
Spastic paraplegia 6, autosomal dominant: A rare genetic disorder characterized by progressive leg spasticity and weakness.
Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.
Spastic paraplegia epilepsy mental retardation: A very rare syndrome characterized mainly by epilepsy, mental retardation and progressive leg weakness and spasticity.
Spastic paraplegia type 5A, recessive: A rare disorder characterized mainly by progressive stiffness and weakness of lower leg muscles. Bladder and speech problems are also usually present.
Spastic paraplegia type 5B, recessive: An extremely rare form of lower leg spasticity and weakness.
Spastic tetraplegic - cerebral palsy: A rare disorder characterized by the association of spasticity (muscle tightness of the arms and legs as well as cerebral palsy.
Spasticity: When there are hypertonic movements of the muscles and they are stiff
Spinal Muscular Atrophy: A rare condition characterized by progressive degeneration of the spinal and brainstem motor neurons. During fetal development excess primary neurons are formed. The body automatically destroys the extra primary neurons so that only some survive and mature into neurons. In spinal muscular dystrophy, the process that destroys the excess primary neurons doesn't switch off and continues destroying the neurons resulting in progressive motor problems. Various types of the condition range from mild to severe enough to cause death within a couple of years of birth.
Spinal Muscular Atrophy type II: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
Spinal Muscular Atrophy type III: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
Spinal bulbar motor neuropathy: A rare inherited disease that affects the nerves in the spine and in the bulbous (bulbar) part of the brain stem. The main signs are muscle weakness and wasting.
Spinal conditions: Any condition that affects the spine
Spinal muscular atrophy, type 3: A rare inherited disorder where motor neuron degeneration causes progressive muscle weakness and atrophy.
Spinocerebellar ataxia - amyotrophy - deafness: A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.
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 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 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 4: An inherited disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as ataxia, sensory neuropathy and spastic paraplegia.
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, 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 dominant: A group of disorder involving slow progressing incoordination and speech and eye movement problems due to degeneration of the cerebellum of the brain. The various forms of the disorder vary according to the degree and range of muscle involvement.
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.
Spondyloepimetaphyseal Dysplasia, Pakistani Type: A rare condition observed in a large family from Pakistani characterized by abnormal bone growth of a distinctive form.
Spondyloepiphyseal dysplasia tarda progressive arthropathy: A rare genetic disorder where abnormal bone development primarily involves the spine and epiphyses (end of long bones where growth occurs). Progressive arthropathy (joint disease) also affects most joints.
Spondyloepiphyseal dysplasia, congenita: A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk.
Spondylometaphyseal dysplasia, Kozlowski type: A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature.
Spondylometaphyseal dysplasia, X-linked: A rare disorder characterized by spine and long bone abnormalities and facial anomalies. The disorder is inherited in a X-linked manner which means that males exhibit the full extent of the symptoms whereas female carriers often have only mild symptoms.
Staggering: When a patient is unsteady on their feet
Staggering gait: When a patients gait is staggering in nature
Standing symptoms: Symptoms related to standing upright
Stiff leg: Reduced mobility or movement of the leg
Stiff thigh: Stiffness of the thigh area
Stiff-Person Syndrome: A very rare progressive neurological disorder involving muscle tightness and painful muscle spasms.
Stroke symptoms: Brain-related symptoms of bleeding or blockage.
Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
Syringomyelia: Spinal cord cysts
Tarsal Fusion: A medical term for the abnormal fusion of two or more tarsal bones to make a single bone. The tarsal bones are the bones that make up the hindfoot.
Tarsal Synostosis: A medical term for the abnormal fusion of two or more tarsal bones to make a single bone. The tarsal bones are the bones that make up the hindfoot.
Tarsal carpal coalition syndrome: A very rare syndrome characterized mainly by fused ankle and wrist bones.
Thigh conditions: Any condition that affects the thigh
Thigh injury: Any injury to the thigh
Toe sprain: Damage to ligaments in a toe.
Torsion dystonia: A movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction.
Torsion dystonia, X-linked: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. The first symptom in this form is spasmodic eye blinking.
Torsion dystonia, autosomal dominant: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. Neck and torso muscle are affected first and progression is slower and occurs over a longer period of time than in the autosomal recessive form.
Torsion dystonia, autosomal recessive: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. Muscle contractures start in the hands and feet and spread quickly to the trunk and extremities. Progression tends to slow down during adulthood.
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.
Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus: An inherited disorder characterized by tremor and normal pressure hydrocephalus.
Unsteady gait: A condition which is characterized by a poorly balanced gait
Upington disease: A rare condition characterized by pelvic anomalies and multiple bone tumors.
Usher Syndrome Type 1: A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.
Variant CJD: New human CJD subtype linked to mad cow disease (BSE).
Vestibular neuritis: A temporary condition which affects the inner ear workings but doesn't impair hearing. It is often caused by an upper respiratory infection.
Vestibulocochlear Nerve Diseases: Diseases that affect the vestibular and/or cochlear nerves of the hearing system. Such diseases include cochlear neuritis, acoustic neuroma, and vestibular neuritis. Symptoms depend on which of the nerves are involved.
Vestibulocochlear dysfunction progressive familial type: An inherited disorder involving progressive hearing loss due to inner ear abnormalities.
Vision Disorders: Any condition which affects ones vision
Vision disorders: Any condition which affects ones vision
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 B6 - adverse effects: Regular use of large doses of vitamin B6 supplements can cause adverse effects.
Vitamin B6 toxicity: Excessive consumption of vitamin B6 (pyridoxine) can cause symptoms of toxicity.
Von Hippel-Lindau Disease: Genetic disease causing multiple benign tumors
Waddling gait: The occurrence of a gait which is waddling in nature
Walking symptoms: Problems with walking.
Walking symptoms in pregnancy: Walking symptoms in pregnancy refers to pain or discomfort in the region of the hips, lower back and pelvis, occurring in the ambulant woman during pregnancy and often increasing with gestation.
Weakness: Symptoms causing weakness of the body
Welander distal myopathy, Swedish type: A very slowly progressing muscle fiber degeneration that starts as mild weakness in the small muscles of hands and feet and may eventually spread to neighbouring muscles.
Weleber Hecht Bigley syndrome: A syndrome that is characterised by cataract hyperostosis and dislocating patella
Wells Jankovic syndrome: A syndrome that is characterised with spastic paraparesis and deafness
Wernicke's encephalopathy: Brain condition with various effects
Wernicke-Korsakoff syndrome: A rare degenerative brain disorder caused by thiamine (Vitamin B1) deficiency. Chronic alcoholics are prone to this condition.
West African Trypanosomiasis: West African sleeping sickness from the tsetse fly
Westphal disease: A condition that is closely associated with Huntington's disease and is a clinical variant of it
Wilson's disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
Wohlwill-Andrade syndrome: A form of amyloidosis that is inherited from the parents
Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
Wolfram's disease: A condition that is inherited and consists of multiple symptoms
X-linked hydrocephalus spectrum: A rare genetic disorder characterized by hydrocephalus, short flexed thumbs and mental deficiency.
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.
Xanax overdose: Xanax is a prescription drug used to treat stress and anxiety. Excessive doses of the drug can result in various symptoms and even death in severe cases.

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