Leukodystrophy is a breakdown 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 breakdown 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.
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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.
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:
You will be asked 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:
Depending on the type of leukodystrophy and the symptoms, treatment may include:
In a few of the leukodystrophies, bone marrow transplant may help. It may be able to slow or stop the progression of the disease.
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
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Last reviewed February 2018 by EBSCO Medical Review BoardRimas Lukas, MD Last Updated: 2/12/2016