Rare Diseases Symptoms Automatic Extraction

Leukodystrophies.

[alexander disease]

Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrophies: X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease, Canavan disease, megalencephalic leukoencephalopathy with subcortical cysts and vanishing white matter disease.

Diseases presenting "leukodystrophy" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • carcinoma of the gallbladder
  • classical phenylketonuria
  • coats disease
  • fabry disease
  • gm1 gangliosidosis
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated