infantile neuroaxonal dystrophy
- infantile neuroaxonal dystrophy
- an autosomal recessive type of encephalopathy that is progressive and degenerative; symptoms begin in infancy with muscular hypotonia and arrested development, followed by dementia, blindness, spasticity, and ataxia. Pathologically it is characterized by widespread focal swellings and degeneration of the axons with scattered spheroids in the brain. One type is caused by a deficiency of α-N-acetylgalactosaminidase. Called also Seitelberger disease.
Medical dictionary.
2011.
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Infantile neuroaxonal dystrophy — Classification and external resources OMIM 256600 DiseasesDB 32201 MeSH … Wikipedia
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INAD — infantile neuroaxonal dystrophy … Medical dictionary
Seitelberger disease — infantile neuroaxonal dystrophy … Medical dictionary
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