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Articles » NINDS Pelizaeus-Merzbacher Disease Information Page: NINDS
 

NINDS Pelizaeus-Merzbacher Disease Information Page: NINDS

Article title: NINDS Pelizaeus-Merzbacher Disease Information Page: NINDS

Main condition: Pelizaeus-Merzbacher Disease

Conditions: Pelizaeus-Merzbacher Disease


What is Pelizaeus-Merzbacher Disease?
Pelizaeus-Merzbacher disease 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 genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain. It is usually caused by a mutation of the gene that codes for a myelin protein called proteolipid protein or PLP. There are several forms of Pelizaeus-Merzbacher disease including classic, connatal, transitional, adult variants. Except for the adult form of the disease, onset of Pelizaeus-Merzbacher disease is usually in early infancy. Early symptoms may include slow growth, nystagmus (rapid, involuntary, rhythmic jerking of the eyes and the head), and failure to develop normal control of head movement. In adult-onset cases, deteriorating speech may be an early sign. Other symptoms may include tremor, various involuntary movements, grimacing, weakness, unsteady gait, and muscle contractures (shrinkage or shortening of a muscle). Over time, legs and arms may become spastic, and mental functions may deteriorate. Some patients may have convulsions and skeletal deformation, resulting from abnormal muscular stress on bones.

Is there any treatment?
There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment, which is symptomatic and supportive, may include medication for seizures and movement disorders.

What is the prognosis?
The prognosis for those with Pelizaeus-Merzbacher disease is poor. The course of the disorder is usually progressive deterioration until death.

What research is being done?
NINDS supports research on genetic disorders including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.

 Organizations

Association for Neuro-Metabolic Disorders
c/o Cheryl Volk
5223 Brookfield Lane
Sylvania, OH 43560
VOLK4OLKS@aol.com
Tel: 419-885-1497

National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel: 203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
NTSAD-boston@worldnet.att.net
http://www.ntsad.org/
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
ulf@tbcnet.com
http://www.ulf.org/
Tel: 815-895-3211 800-728-5483
Fax: 815-895-2432

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


 

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