Rare Diseases Symptoms Automatic Extraction

Clinical, radiological and genetic aspects of leukodystrophies.

[alexander disease]

The authors summarize the pathomechanism of the myelination process, the clinical, radiological and the genetical aspects of the leukodystrophies, as in 18q deletion syndrome, adrenoleukodysrtophy, metachromatic leukodystrophy, Pelizaeus-Merzbacher leukodystrophy, Alexander disease and olivo-ponto-cerebellar atrophy (OPCA).

Diseases presenting "cerebellar atrophy" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • canavan disease
  • x-linked adrenoleukodystrophy

This symptom has already been validated