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.
Neuronal Axon with Myelin Sheath
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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.
Symptoms of leukodystrophy may include:
Some leukodystrophies may involve other organ systems which can cause:
Your doctor will ask 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.
National Institute of Neurological Disorders and Stroke
United Leukodystrophy Foundation
Bethany's Hope Foundation
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Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm. Updated September 11, 2015. Accessed February 12, 2016.
Metachromatic leukodystrophy. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T113939/Metachromatic-leukodystrophy. Updated August 4, 2016. Accessed September 28, 2016.
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What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed February 12, 2016.
Last reviewed March 2017 by EBSCO Medical Review BoardRimas 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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