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:
Most leukodystrophies begin in infancy or childhood. However, there are several types that may not begin until adolescence or early adulthood.
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:
Symptoms of leukodystrophy may include:
Some leukodystrophies are accompanied by involvement of other organ systems, resulting in:
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:
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 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.
RESOURCES:
National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov/
United Leukodystrophy Foundation
http://www.ulf.org/
CANADIAN RESOURCES:
Bethany's Hope Foundation
http://www.bethanyshope.org/
Canadian Association for Tay-Sachs and Allied Diseases
http://www.catsad.ca/Index.htm/
References:
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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.
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