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.

Look at other dictionaries:

  • Infantile neuroaxonal dystrophy — Classification and external resources OMIM 256600 DiseasesDB 32201 MeSH …   Wikipedia

  • dystrophy — Progressive changes that may result from defective nutrition of a tissue or organ. SYN: dystrophia. [dys + G. trophe, nourishment] adiposogenital d. a disorder characterized primarily by obesity and hypogonadotrophic hypogonadism …   Medical dictionary

  • neuraxonal dystrophy — neuroaxonal dystrophy 1. see 2. infantile neuroaxonal d. an inherited neurological disorder in sheep, dogs, and horses, characterized by ataxia and proprioceptive difficulties, usually with death at an early age …   Medical dictionary

  • INAD — infantile neuroaxonal dystrophy …   Medical dictionary

  • Seitelberger disease — infantile neuroaxonal dystrophy …   Medical dictionary

  • INAD — • infantile neuroaxonal dystrophy …   Dictionary of medical acronyms & abbreviations

  • Morbus Kanzaki — Klassifikation nach ICD 10 E74.2 Störungen des Galaktosestoffwechsels …   Deutsch Wikipedia

  • Morbus Schindler — Klassifikation nach ICD 10 E74.2 Störungen des Galaktosestoffwechsels …   Deutsch Wikipedia

  • Schindler-Krankheit — Klassifikation nach ICD 10 E74.2 Störungen des Galaktosestoffwechsels …   Deutsch Wikipedia

  • Α-N-Acetylgalactosaminidase-Mangel — Klassifikation nach ICD 10 E74.2 Störungen des Galaktosestoffwechsels …   Deutsch Wikipedia


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