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Definition

Leukodystrophy is a rare genetic disorder that affects the brain, spinal cord, and nerves. It happens when a protective nerve coating called myelin breaks down in the brain. This makes it hard for nerves to work as they should. The disease worsens over time.

There are 52 types of this disease. Each type affects a different part of myelin.

Neuronal Axon with Myelin Sheath
AX00010 97870 1 myelin sheath
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Causes

Each type of this disease is the result of a specific faulty gene. They are mainly passed from parent to child. Some people may also have the faulty gene even though they do not have a family history of this disease.

Risk Factors

This disease is more common in people who have a family history of the disease.

Symptoms

Some types of this disease start after birth. Others may not start until childhood or adulthood.

Problems vary with each type. Common problems are:

  • Problems with movement and balance
  • Problems walking
  • Eyesight and hearing problems
  • Problems eating
  • Memory loss
  • Changes in behavior and thinking
  • Problems speaking

Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done.

Images of the brain may be taken. This can be done with:

Other tests that may be done are:

  • Blood tests, which include genetic testing
  • Urine tests

Treatment

There is no cure. How it is treated depends on the type. The goal is to manage symptoms and provide support. Choices are:

  • Medicines to ease symptoms and pain
  • Physical, occupational, and speech therapy
  • A dietitian to help with meal planning
  • Education services to help with learning

Bone marrow transplant may slow or stop some types of the disease from getting worse.

Prevention

There are no current guidelines to prevent this disease.

RESOURCES

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

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

CANADIAN RESOURCES

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

Foundation Leukodystrophie  http://www.leukofoundation.com 

References

Gieselmann V. Metachromatic leukodystrophy: recent research developments. J Child Neurol. 2003 Sep;18(9):591-594.

Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Leukodystrophy-Information-Page. Updated March 27, 2019. Accessed April 15, 2020.

Metachromatic leukodystrophy. EBSCO DynaMed website. Available at:  https://www.dynamed.com/condition/metachromatic-leukodystrophy  . Updated August 4, 2016. Accessed April 15, 2020.

What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed April 15, 2020.

Revision Information

  • Reviewer: EBSCO Medical Review Board Rimas Lukas, MD
  • Review Date: 02/2020
  • Update Date: 04/15/2020