• Leukodystrophy


    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
    • 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.


    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 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


    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:

    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.


    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.


    National Institute of Neurological Disorders and Stroke https://www.ninds.nih.gov

    United Leukodystrophy Foundation http://www.ulf.org


    Bethany's Hope Foundation http://bethanyshope.org

    Leukodystrophies Foundation http://www.leukofoundation.com


    Lamari F, Mochel F, Sedel F, Saudurbray JM. Disorders of phospholipids, sphingolibids, and fatty acids biosynthesis: Toward a new category of inherited metabolic diseases. J Inherit Metab Dis. 2013;36(3):411-425.

    Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm. Updated September 11, 2015. Accessed February 12, 2016.

    Metachromatic leukodystrophy. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T113939/Metachromatic-leukodystrophy. Updated August 4, 2016. Accessed September 28, 2016.

    Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007;3(3):140-151.

    Schonberger S, Roerig P, et al. Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol. 2007;64(5):651-657.

    Shimozawa N. Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis. 2007;30(2):193-197.

    What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed February 12, 2016.

    Revision Information

    • Reviewer: EBSCO Medical Review BoardRimas Lukas, MD
    • Review Date: 03/2017
    • Update Date: 02/12/2016
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