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...

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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