NINDS Pelizaeus-Merzbacher Disease Information Page

Skip secondary menu

Table of Contents (click to jump to sections)
What is Pelizaeus-Merzbacher Disease?
Is there any treatment?
What is the prognosis?
What research is being done?


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?

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 movement disorders.

What is the prognosis?

The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form (in which spastic paraplegia is the chief symptom) may have nearly normal activity and life span.

What research is being done?

NINDS supports research on gene-linked 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.

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
Fax: 815-895-2432

Hunter's Hope Foundation [A Leukodystrophy Resource]
P.O. Box 643
Orchard Park, NY   14127
Tel: 716-667-1200 877-984-HOPE (-4673)
Fax: 716-667-1212

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)
Fax: 203-798-2291

Myelin Project
1400 Wallace Blvd.
Suite 258
Amarillo, TX   79106
Tel: 806-356-4693 800-869-3546
Fax: 806-356-4694

Pelizaeus-Merzbacher Disease Foundation
1307 White Horse Road, Suite 603
Voorhees, NJ   08043
Tel: 609-443-9623


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Return to top

Last updated February 14, 2007