Leukodystrophy is a break down of a part of the brain called the myelin, which is also called white matter. Myelin protects the part of the nerve that sends signals from the brain to the rest of the body. The break down of myelin makes it difficult for the brain to send signals to the body. 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 freely.
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:
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.
Talk to your doctor to find out what treatments may be right for you.
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 May 6, 2010. Accessed May 20, 2013.
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What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy . Accessed May 20, 2013.
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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