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.
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.
This disease is more common in people who have a family history of the disease.
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
Eyesight and hearing problems
Changes in behavior and thinking
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:
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.
What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed April 15, 2020.
Last reviewed February 2020 by
EBSCO Medical Review Board
Rimas Lukas, MD
Last Updated: 4/15/2020
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