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.
Neuronal Axon with Myelin Sheath
AX00010 97870 1 myelin sheath
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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:
Some leukodystrophies may involve other organ systems which can cause:


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:
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

United Leukodystrophy Foundation


Bethany's Hope Foundation

Leukodystrophies Foundation


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: Updated September 11, 2015. Accessed February 12, 2016.

Metachromatic leukodystrophy. EBSCO DynaMed website. Available at: . Updated January 20, 2011. Accessed February 12, 2016.

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

Schonberger S, Roerig P, Schneider DT, 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: Accessed February 12, 2016.

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