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:
- Metachromatic leukodystrophy
- Krabbé disease
- 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
Leukodystrophy is caused by genetic defects that lead to imperfect growth or development of the myelin sheath that covers the axon. (An axon is a part of the nerve cell.) 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.
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:
- ]]>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
Your doctor will ask about your symptoms and medical history, and perform a physical exam. 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:
- Urine analysis
- Nerve biopsy
- Blood test
- ]]>Biopsy]]> —removal of a sample of skin 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
Talk with your doctor about the best treatment plan for you. Treatment options include:
Management of Symptoms
Depending on the type of leukodystrophy and the symptoms, treatment may include:
- Physical, occupational, and/or speech therapy
- Nutritional programs
- Recreational programs
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. 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
Canadian Association for Tay-Sachs and Allied Diseases
Cabrera-Salazar MA, Barranger JA, Brown FR. Mucopolysaccharidoses. In: Gilman S, ed. MedLink Neurology. San Diego, CA: MedLink Corporation. Available at: http://www.medlink.com . Accessed August 10, 2007.
DeKosky S, Kaufer D, Hamilton R, Wolk D, Lopez O. The dementias. In: Bradley WG, ed. Neurology in Clinical Practice. 5th ed. Philadelphia, PA: Butterworth Heinemann Elsevier; 2008.
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol . 2007 May;64:651-657. Epub 2007 Mar 12.
Magnetic resonance imaging. United Leukodystrophy Foundation website. Available at: http://www.ulf.org/patients/MRIfacts.html . Accessed June 22, 2007.
Metachromatic leukodystrophy. Medline Plus website. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm .
Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy [review]. Nat Clin Pract Neurol . 2007;3:140-151.
Ropper AH, Brown RH. Adams and Victor's Principles of Neurology. 8th ed. New York, NY: McGraw-Hill Medical Publishing Division; 2005: chap 37.
Schonberger S, Roerig P, Schneider DT, Reifenberger G, Gobel U, Gartner J. Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm . Accessed June 22, 2007.
Shimozawa N. Molecular and clinical aspects of peroxisomal diseases [review]. J Inherit Metab Dis. 2007;30:193-197. Epub 2007 Mar 8.
What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://www.ulf.org/whatis.html . Accessed June 22, 2007.
Last reviewed January 2009 by ]]>J. Thomas Megerian, MD, PhD, FAAP]]>
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.
Copyright © 2007 EBSCO Publishing All rights reserved.