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

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:

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

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

Treatment

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

Management of Symptoms

Depending on the type of leukodystrophy and the symptoms, treatment may include:

  • Medications to reduce symptoms and relieve pain.
  • Physical, occupational, and/or speech therapy
  • Nutritional programs
  • Education
  • Recreational programs

Bone Marrow Transplant

In a few of the leukodystrophies, bone marrow transplant may help. It may be able to slow or stop the progression of the disease.

Enzyme Replacement Therapy

Replacement of the abnormal or absent enzyme is being explored for a few of the leukodystrophies. Research is being done in this area.

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

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

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.

Revisions

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