Prevalence and Incidence of Aicardi syndrome
Prevalance of Aicardi syndrome:
rare ... see also overview of Aicardi syndrome.
Aicardi syndrome: Rare Disease
Aicardi syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Aicardi syndrome, or a subtype of Aicardi syndrome,
affects less than 200,000 people in the US population.
Ophanet, who are a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Aicardi syndrome as a "rare disease".
More information about Aicardi syndrome is available from Orphanet
Aicardi syndrome Prevalence: Book Excerpts
Prevalence/Incidence of Aicardi syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about the prevalence and/or incidence of Aicardi syndrome.
Seizures - Case 19-3: 8-Month-Old Boy:
III. Incidence and Epidemiology
(Pediatric Complaints and Diagnostic Dilemmas)
The GSDs, or glycogenoses, comprise several inherited diseases caused by
deficiency in one of the enzymes that regulate the synthesis or degradation of
glycogen. The end result is abnormal accumulation of glycogen in various
tissues. GSD type I has an estimated incidence of 1 in 200,000 births. GSD IA
is caused by deficiency of the enzyme G6P, which catalyzes the breakdown of
stored glycogen into glucose for use by the body. At least 56 different
mutations in the gene for G6P (chromosome 17q21) have been found in patients
with GSD IA. Failure of the G6P transporter (GSD IB) or of the microsomal
phosphate transporter (GSD IC) also ultimately impair G6P activity. The three
types of GSD result in similar clinical and biochemical disturbances. G6P is
expressed in the liver, kidneys, and intestines.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Infantile Spasms:
Infantile Spasms - epidemiology
(The 5-Minute Pediatric Consult)
- Boys more often affected than girls
- Peak age of onset is 4–9 months; onset usually before 1 year of age
Infantile Spasms - incidence
Incidence is 0.25–0.42 per 1,000 live births.
» READ BOOK EXCERPT ONLINE »
Source: The 5-Minute Pediatric Consult, 2008
About prevalence and incidence statistics:
The term 'prevalence' of Aicardi syndrome usually refers to the estimated population
of people who are managing Aicardi syndrome at any given time.
The term 'incidence' of Aicardi syndrome refers to the annual diagnosis rate,
or the number of new cases of Aicardi syndrome diagnosed each year.
Hence, these two statistics types can differ:
a short-lived disease like flu can have high annual incidence but low prevalence,
but a life-long disease like diabetes has a low annual incidence but high prevalence.
For more information see about prevalence and incidence statistics.
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