What is Pelizaeus-Merzbacher Disease?
Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein (PLP). PMD is inherited as an X-linked recessive trait, in that the affected individuals are male and the mothers are carriers of the PLP mutation. Severity and onset of the disease ranges widely, depending on the type of PLP mutation, and extends from the mild, adult-onset spastic paraplegia (SPG2) to the severe form with onset at infancy and death in early childhood. The characteristic set of neurological symptoms includes nystagmus (rapid, involuntary, rhythmic jerking of the eyes and the head), spastic paraparesis (paralysis of the legs with hyperactive tendon reflexes), and limb ataxia (lack of coordination in the arms and legs). Pronounced changes in the extent of myelination can be detected by MRI analyses. Other symptoms may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and mental function.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
|United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
Tel: 815-895-3211 800-728-5483
|Hunter's Hope Foundation
[A Leukodystrophy Resource]
P.O. Box 643
Orchard Park, NY 14127
Tel: 716-667-1200 877-984-HOPE (-4673)
|National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
1400 Wallace Blvd.
Amarillo, TX 79106
Tel: 806-356-4693 800-869-3546
|Pelizaeus-Merzbacher Disease Foundation
1307 White Horse Road, Suite 603
Voorhees, NJ 08043
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National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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Last updated February 14, 2007