Health Library

Leukodystrophy

Definition

Leukodystrophy is a rare disease. It causes a break down of a part of the brain called the myelin, or “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.

Types of leukodystrophies include:

Metachromatic leukodystrophy

Krabbé disease

Adrenoleukodystrophy
Adrenomyelopathy
Pelizaeus-Merzbacher disease
Canavan disease
Childhood ataxia with central nervous system hypomyelination (CACH, also called vanishing white matter disease)
Alexander disease
Refsum disease
Cerebrotendinous 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

Causes

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 spontaneously.

Risk Factors

A family history of leukodystrophy may increase your chance of leukodystrophy.

Symptoms

Symptoms of leukodystrophy may include:

Gradual decline of the health of an infant or child who previously appeared well

Loss or increase in muscle tone

Change in movements

Seizures
Abnormal eye movements
Change in walking pattern
Loss of speech
Loss of the ability to eat
Loss of vision
Loss of hearing
Change in behavior
Slowdown of mental and physical development

Some leukodystrophies may involve other organ systems which can cause:

Blindness
Heart disease
Enlargement of the liver and spleen
Skeletal abnormalities, such as short stature, coarse facial appearance, and joint stiffness
Respiratory disease leading to breathing problems
Bronzing of the skin
Formation of cholesterol nodules on tendons

Diagnosis

Your doctor will ask about your symptoms and medical history. A physical exam will be done. Images of the brain may be taken. Your doctor may order a magnetic resonance imaging (MRI) to help diagnosis leukodystrophy. Other tests include:

Urine analysis
Nerve biopsy
Blood test
Biopsy —removal of a sample of skin (or other) tissue
CT scan —a type of x-ray that uses a computer to make pictures of structures inside the skull
Lumbar puncture —a procedure to collect cerebrospinal fluid
Nerve conduction testing —a test that measures the speed and degree of electrical activity in a nerve to determine if it is functioning normally
Evoked potential test—a test that measures how well signals are conducted through the nervous system

Treatment

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
Physical, occupational, and/or speech therapy
Nutritional programs
Education
Recreational 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.

Prevention

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

http://www.ninds.nih.gov/

United Leukodystrophy Foundation

http://www.ulf.org/

Bethany's Hope Foundation

http://www.bethanyshope.org/

Canadian Association for Tay-Sachs and Allied Diseases

http://www.catsad.ca/Index.htm/

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DynaMed Editorial Team. Metachromatic leukodystrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php. Updated January 20, 2011. Accessed September 20, 2012.

Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol. 2007;64:651-657.

Lamari F, et al. Disorders of phospholipids, sphingolibids, and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit metab Dis. 2012. July 20.

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Ropper AH, Brown RH. Adams and Victor's Principles of Neurology. 8th ed. New York, NY: McGraw-Hill Medical Publishing Division; 2005: chap 37.

Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm. Accessed September 20, 2012.

Shimozawa N. Molecular and clinical aspects of peroxisomal diseases [review]. J Inherit Metab Dis. 2007;30:193-197.

United Leukodystrophy Foundation. What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed September 20, 2012.

Last reviewed September 2012 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.