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Leukodystrophy

Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. more...

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Types

Specific leukodystrophies include (ICD-10 codes are provided where available):

  • (E71.3) adrenoleukodystrophy
  • (E75.2) metachromatic leukodystrophy
  • (E75.2) Krabbe disease
  • (E75.2) Pelizaeus-Merzbacher disease
  • Canavan disease
  • childhood ataxia with central hypomyelination (CACH or vanishing white matter disease)
  • Alexander disease
  • (G60.1) Refsum disease
  • cerebrotendineous xanthomatosis

Symptoms

The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.

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The Official Parent's Sourcebook on Metachromatic Leukodystrophy: A Revised and Updated Directory for the Internet Age $14.95 The Official Parent's Sourcebook on Leukodystrophy: A Revised and Updated Directory for the Internet Age $28.95
Gale Encyclopedia of Medicine : Lipidoses $5.99 Leukodystrophy: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References $39.41
21st Century Complete Medical Guide to Leukodystrophies: Authoritative Government Documents, Clinical References, and Practical Information for Patients and Physicians $25.00 21st Century Complete Medical Guide to Degenerative Nerve Diseases, Adrenoleukodystrophy, Leukodystrophy, Rett Syndrome, Canavan Disease, Ataxias, Authoritative ... for Patients and Physicians (CD-ROM) $16.50

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