Loading icon
Press enter or spacebar to select a desired language.
Health Information Center


  • Cynthia M. Johnson, MA
Publication Type:




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_sheathhttp://services.epnet.com/getimage.aspx?imageiid=65496549AX00010_97870_1_myelin_sheath.jpegAX00010_97870_1_myelin_sheathNULLjpegAX00010_97870_1_myelin_sheathNULL\\hgfiler01a\intellect\images\AX00010_97870_1_myelin_sheath.jpegNULL51NULL2007-10-164001946549_230609Copyright © Nucleus Medical Media, Inc.


Leukodystrophy is caused by a gene problem. It is mainly passed from parent to child. Some people may also have the gene problem even though they do not have a family history of this disease.

Risk Factors

This risk of having leukodystrophy is higher in people who have a family history of it.


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

Problems vary with each type. A person may have:

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


The doctor will ask about 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


The goal of treatment is to manage symptoms and provide support as leukodystrophy gets worse. There is no cure. How it is treated depends on the type. The doctor may advise:

  • 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.


Leukodystrophy often cannot prevented. People with a family history of it may want to talk to their doctor about their options before having children.





  • Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/health-information/disorders/leukodystrophy.
  • Metachromatic leukodystrophy. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/metachromatic-leukodystrophy.
  • Rossini, L., Durante, C., et al. New indications for hematopoietic stem cell gene therapy in lysosomal storage diseases. Front Oncol, 2022; 12.
  • What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/leukodystrophies/what-is-leukodystrophy.


  • Rimas Lukas, MD
Last Updated:

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.