About The Medical Condition Canavan Disease, Familial Form

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Find the definition of the medical term Canavan Disease, Familial Form. Canavan Disease, Familial Form defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Canavan Disease, Familial Form

Canavan Disease, Familial Form Medical Condition Defined & Explained
Canavan Disease, Familial Form Medical Condition

What's The Definition Of The Medical Condition Canavan Disease, Familial Form?

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)

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