Leukodystrophy

Definition

Leukodystrophy is a break down of a component of the nervous system called the myelin, which is a significant part of what makes the white matter of the brain. Myelin protects the part of the nerve that sends signals throughout the brain. The break down of myelin makes it difficult for the brain to send these signals. Leukodystrophy is a rare disease.Types of leukodystrophies include:
  • Metachromatic leukodystrophy
  • Krabbé disease
  • Adrenoleukodystrophy
  • Adrenomyelopathy
  • Pelizaeus-Merzbacher disease
  • Canavan disease
  • Childhood ataxia with central nervous system hypomyelination (CACH), which is also called vanishing white matter disease
  • Alexander disease
  • Refsum disease
  • Cerebrotendinous xanthomatosis
Most leukodystrophies begin in infancy or childhood. However, there are several types that may not begin until adolescence or early adulthood.
Neuronal Axon With Myelin Sheath
AX00010 97870 1 myelin sheath
Copyright © Nucleus Medical Media, Inc.

Causes

Leukodystrophy is caused by a genetic defect. This defect impairs the growth or development of the myelin. Each type of leukodystrophy is the result of a specific genetic defect. Most leukodystrophies are passed from parent to child, though some may develop in people without a family history.

Risk Factors

A family history of leukodystrophy may increase your chance of leukodystrophy.

Symptoms

Symptoms of leukodystrophy may include:
  • Gradual decline of the health of an infant or child who previously appeared well
  • Loss or increase in muscle tone
  • Change in movements
  • Seizures
  • Abnormal eye movements
  • Change in walking pattern
  • Loss of speech
  • Loss of the ability to eat
  • Loss of vision
  • Loss of hearing
  • Change in behavior
  • Slowdown of mental and physical development
Some leukodystrophies may involve other organ systems which can cause:
  • Blindness
  • Heart disease
  • Enlargement of the liver and spleen
  • Skeletal abnormalities, such as short stature, coarse facial appearance, and joint stiffness
  • Respiratory disease leading to breathing problems
  • Bronzing of the skin
  • Cholesterol nodules to form on tendons

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