Leukodystrophy is a break down 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 break down of myelin makes it difficult for the brain to send these signals. Leukodystrophy is a rare disease.
Types of leukodystrophies include: Metachromatic leukodystrophyKrabbé diseaseAdrenoleukodystrophyAdrenomyelopathyPelizaeus-Merzbacher diseaseCanavan diseaseChildhood ataxia with central nervous system hypomyelination (CACH), which is also called vanishing white matter diseaseAlexander diseaseRefsum diseaseCerebrotendinous xanthomatosis
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
Copyright © Nucleus Medical Media, Inc.
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: Gradual decline of the health of an infant or child who previously appeared wellLoss or increase in muscle toneChange in movementsSeizuresAbnormal eye movementsChange in walking patternLoss of speechLoss of the ability to eatLoss of visionLoss of hearingChange in behaviorSlowdown of mental and physical development
Some leukodystrophies may involve other organ systems which can cause: BlindnessHeart diseaseEnlargement of the liver and spleenSkeletal abnormalities, such as short stature, coarse facial appearance, and joint stiffnessRespiratory disease leading to breathing problemsBronzing of the skinCholesterol nodules to form on tendons
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: MRICT scan
Your bodily fluids and tissues may be tested. This can be done with: Urine analysisNerve or brain biopsyBlood testBiopsyLumbar puncture
Tests may be done on your nerves. This can be done with: Nerve conduction testingEvoked potential test
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: Medications to reduce symptoms and relieve pain.Physical, occupational, and/or speech therapyNutritional programsEducationRecreational programs
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.
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.
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What is leukodystrophy? United Leukodystrophy Foundation website. Available at:
Accessed February 13, 2014.
Last reviewed February 2014 by Rimas 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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