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Dictionary » Canavan disease
 

Canavan disease

Introduction: Canavan disease

Description of Canavan disease

Canavan disease (medical condition): Rare genetic degenerative brain disease in infants....more »

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Canavan disease:
  »Introduction: Canavan disease
  »Symptoms of Canavan disease
  »Treatments for Canavan disease

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

Canavan disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Canavan disease:

Canavan disease: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

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 as a Disease

Canavan disease (medical condition): See Canavan disease (disease information).
  »Introduction: Canavan disease
  »Symptoms of Canavan disease
  »Treatments for Canavan disease

Canavan disease: Related Diseases

Canavan disease: Canavan disease is listed as a type of (or associated with) the following medical conditions in our database:

Canavan disease: Article Excerpts

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)

More information on medical condition: Canavan disease:

Canavan disease: Related Disease Topics

These medical disease topics may be related to Canavan disease:

Terms associated with Canavan disease:

Terms Similar to Canavan disease:

Source - NIH

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