| Risk Factors
Leukodystrophy is a breakdown 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 breakdown 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
- 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
Copyright © Nucleus Medical Media, Inc.
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.
A family history of leukodystrophy may increase your chance of leukodystrophy.
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
- 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:
- 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
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:
- Urine analysis
- Nerve or brain biopsy
- Blood tests, which include genetic testing
- Lumbar puncture
Tests may be done on your nerves. This can be done with:
In rare cases, a brain biopsy may be done.
Talk with your doctor about the best treatment plan for you. Treatment options include:
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
- Recreational programs
In a few of the leukodystrophies,
bone marrow transplant
may help. It may be able to slow or stop the progression of the disease.
Replacement of the abnormal or absent enzyme is being explored for a few of the leukodystrophies. Research is being done in this area.
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.
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Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at:
Updated September 11, 2015. Accessed February 12, 2016.
Metachromatic leukodystrophy. EBSCO DynaMed Plus website. Available at:
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Accessed February 12, 2016.
Last reviewed March 2017 by
EBSCO Medical Review BoardRimas Lukas, MD
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