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Leukodystrophy

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Deborah L. Renaud, MD, Departments of Neurology and Pediatrics, Mayo Clinic; Ann B. Moser, MA, The Hugo W. Moser Research Institute, Kennedy Krieger Institute; and Hugo Moser, MD, deceased, former Director of the Neurogenetics Research Center at Kennedy Krieger Institute, for assistance in the preparation of this report.

Synonyms of Leukodystrophy

  • hereditary white matter disorders
  • inherited leukoencephalopathies

Disorder Subdivisions

  • Aicardi-Goutieres syndrome
  • Alexander disease
  • CADASIL
  • Canavan disease
  • CARASIL
  • cerebrotendinous xanthomatosis
  • childhood ataxia and cerebral hypomyelination (CACH)
  • Fabry disease
  • fucosidosis
  • glutaric aciduria type I
  • GM1 gangliosidosis
  • Krabbe disease
  • L-2-hydroxyglutaric aciduria
  • megalencephalic leukoencephalopathy with subcortical cysts
  • metachromatic leukodystrophy
  • multiple sulfatase deficiency
  • Pelizaeus-Merzbacher disease
  • Refsum disease
  • salla disease (free sialic acid storage disease)
  • Sjogren-Larsson syndrome
  • X-linked adrenoleukodystrophy
  • Zellweger syndrome spectrum disorders

General Discussion

Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.

Leukodystrophy Resources

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