Leukodystrophy is a rare disease that results in the progressive decline of the myelin, or white matter, of the brain. Myelin works to insulate and protect axons, which transmit signals from the brain throughout the body.
Types of leukodystrophies include:
Childhood ataxia with central nervous system hypomyelination (CACH, or "vanishing white matter disease")
Leukodystrophy is caused by genetic defects that lead to imperfect growth or development of the myelin sheath that covers the axon. Each type of leukodystrophy is the result of a certain genetic defect that controls one of the chemicals that make up myelin. Most leukodystrophies are inherited, or passed from parent to child. Others may arise spontaneously.
A risk factor is something that increases your chance of getting a disease or condition.
The following factor is thought to increase the risk of leukodystrophy:
Family history of the disease
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
Abnormal eye movements
Change in gait
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 are accompanied by involvement of other organ systems, resulting in:
Enlargement of the liver and spleen
Skeletal abnormalities such as short stature, coarse facial appearance, and joint stiffness
Respiratory disease leading to breathing problems
Your doctor will ask about your symptoms and medical history, and perform a physical exam. He or she will also perform magnetic resonance imaging (MRI) to produce detailed images of the brain, which can help in the diagnosis of leukodystrophy. Other tests include:
CT scana type of x-ray that uses a computer to make pictures of structures inside the skull
Lumbar puncture for cerebrospinal fluid sampling
Blood test or skin biopsy
Nerve conduction testing
Talk with your doctor about the best treatment plan for you. Treatment options include:
Management of Symptoms
In most cases, treatment of leukodystrophy involves symptomatic and supportive treatments. These may include medications; physical, occupational, and/or speech therapy; nutritional programs; education; and/or recreational programs. The type of treatment used will depend on the type of leukodystrophy and symptoms present.
Bone Marrow Transplant
In a few of the leukodystrophies, bone marrow transplant may help stop the progression of the disease.
Enzyme Replacement Therapy
Replacement of the abnormal or absent enzyme is being explored for a few of the leukodystrophies. As this is a constantly evolving field, it is important to consult your doctor for the latest available treatments in this area.
There is no known way to prevent leukodystrophy. For parents who have had a child with leukodystrophy, genetic counseling may be beneficial to find out the chances of having another child with the disease.
National Institute of Neurological Disorders and Stroke
United Leukodystrophy Foundation
Canadian Association for Tay-Sachs and Allied Diseases
Children Living With Inherited Metabolic Diseases
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Last reviewed April 2008 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.