Leukodystrophy

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: Most leukodystrophies begin in infancy or childhood. However, there are several types that may not begin until adolescence or early adulthood.

  • 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.

  • 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.

  • Diagnosis

    Your doctor will ask about your symptoms and medical history. A physical exam will be done.

    Images of the brain may be taken. This can be done with:

    • MRI
    • CT scan

    Your bodily fluids and tissues may be tested. This can be done with:

    • Urine analysis
    • Nerve or brain biopsy
    • Blood test
    • Biopsy
    • Lumbar puncture

    Tests may be done on your nerves. This can be done with:

    • Nerve conduction testing
    • Evoked potential test

  • Prevention

    There is no known way to prevent leukodystrophy. For parents who have had a child with leukodystrophy, genetic counseling may be helpful. This counseling will help to determine the chances of having another child with the disease.

  • 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

  • Treatment

    Talk with your doctor about the best treatment plan for you. Treatment options include:

    Talk to your doctor to find out what treatments may be right for you.