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Leukodystrophy is a rare disease that results in the progressive decline of the myelin, or “white matter,” of the brain. Myelin works to insulate and protect axons, which transmit signals from the brain throughout the body.

Types of leukodystrophies include:

  • Metachromatic leukodystrophy
  • Krabbé disease
  • Adrenoleukodystrophy
  • Adrenomyelopathy
  • Pelizaeus-Merzbacher disease
  • Canavan disease
  • Childhood ataxia with central nervous system hypomyelination (CACH, or "vanishing white matter disease")
  • Alexander disease
  • Refsum disease
  • Cerebrotendinous xanthomatosis

Neuronal Axon With Myelin Sheath


© 2008 Nucleus Medical Art, Inc.


Leukodystrophy is caused by genetic defects that lead to imperfect growth or development of the myelin sheath that covers the axon. Each type of leukodystrophy is the result of a certain genetic defect that controls one of the chemicals that make up myelin. Most leukodystrophies are inherited, or passed from parent to child. Others may arise spontaneously.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

The following factor is thought to increase the risk of leukodystrophy:

  • Family history of the disease


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 gait
  • 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 are accompanied by involvement of other organ systems, resulting in:

  • 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


Your doctor will ask about your symptoms and medical history, and perform a physical exam. He or she will also perform magnetic resonance imaging (MRI) to produce detailed images of the brain, which can help in the diagnosis of leukodystrophy. Other tests include:


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

Management of Symptoms

In most cases, treatment of leukodystrophy involves symptomatic and supportive treatments. These may include medications; physical, occupational, and/or speech therapy; nutritional programs; education; and/or recreational programs. The type of treatment used will depend on the type of leukodystrophy and symptoms present.

Bone Marrow Transplant

In a few of the leukodystrophies, bone marrow transplant may help 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. As this is a constantly evolving field, it is important to consult your doctor for the latest available treatments in this area.


There is no known way to prevent leukodystrophy. For parents who have had a child with leukodystrophy, genetic counseling may be beneficial to find out the chances of having another child with the disease.


National Institute of Neurological Disorders and Stroke

United Leukodystrophy Foundation


Canadian Association for Tay-Sachs and Allied Diseases

Children Living With Inherited Metabolic Diseases


Cabrera-Salazar MA, Barranger JA, Brown FR. Mucopolysaccharidoses. In: Gilman S, ed. MedLink Neurology. San Diego, CA: MedLink Corporation. Available at: http://www.medlink.com. Accessed August 10, 2007.

Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol. 2007 May;64:651-657. Epub 2007 Mar 12. Accessed June 22, 2007.

Magnetic resonance imaging. United Leukodystrophy Foundation website. Available at: http://www.ulf.org/patients/MRIfacts.html. Accessed June 22, 2007.

Metachromatic leukodystrophy. Medline Plus website. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm.

Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy [review]. Nat Clin Pract Neurol. 2007;3:140-151. Accessed June 22, 2007.

Schonberger S, Roerig P, Schneider DT, Reifenberger G, Gobel U, Gartner J. Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm.

Shimozawa N. Molecular and clinical aspects of peroxisomal diseases [review]. J Inherit Metab Dis. 2007;30:193-197. Epub 2007 Mar 8. Accessed June 22, 2007.

What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://www.ulf.org/whatis.html. Accessed June 22, 2007.

Last reviewed April 2008 by Rimas Lukas, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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