See what questions
a doctor would ask.
Canavan disease (medical condition): Rare genetic degenerative brain disease in infants....more »
Canavan disease: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71).
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Canavan disease:
Canavan disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Canavan disease, or a subtype of Canavan disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Canavan disease as a "rare disease".
Source - Orphanet
Canavan disease: Canavan disease is listed as a type of (or associated with) the following medical conditions in our database:
Canavan disease is a rare, inherited, neurological disorder characterized by spongy... (Source: excerpt from NINDS Canavan Disease Information Page: NINDS)
Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the ... (Source: excerpt from NINDS Canavan Disease Information Page: NINDS)
These medical disease topics may be related to Canavan disease:
Source - NIH
Search to find out more about Canavan disease:
Search Specialists by State and City