Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, and degenerative central nervous system disorder that deteriorates coordination, motor abilities, and cognitive function. The disease is one of a group of 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.

Pelizaeus-Merzbacher disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). Severity and onset of the disease ranges widely depending on the type of PLP1 mutation. Pelizaeus-Merzbacher disease is one in a spectrum of diseases associated with PLP1, which also includes spastic paraplegia type 2 (SPG2). Symptoms of PLP1-related disorders range from severe central nervous system involvement to progressive weakness and stiffness of the legs.

There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive and may include medication for movement disorders. The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor due to the progressive deterioration. Individuals with the mild form may have an average life span.

How can I or my loved one help improve care for people with Pelizaeus-Merzbacher disease?

Pelizaeus-Merzbacher disease is considered rare, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with the disorder, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about Pelizaeus-Merzbacher disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Pelizaeus-Merzbacher disease at Clinicaltrials.gov.

Where can I find more information about Pelizaeus-Merzbacher disease?

The following organizations and resources help individuals, families, friends, and caregivers of people living with Pelizaeus-Merzbacher disease:

Genetic and Rare Diseases (GARD) Information Center

Hunter's Hope Foundation
Phone: 716-667-1200 or 877-984-4673

MedlinePlus

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673

Pelizaeus-Merzbacher Disease Foundation
Phone: 254-313-9107

PubMed

United Leukodystrophy Foundation
Phone: 815-748-3211 or 800-728-5483

Content source: https://www.ninds.nih.gov/health-information/disorders/pelizaeus-merzbacher-disease Accessed June 29, 2023.

The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.