Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Pelizaeus–Merzbacher-like disease
Pelizaeus–Merzbacher-like disease
Alternative Names: PMLD
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the GJC2 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. Symptoms of PMLD include weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), delayed development of speech and motor skills (such as sitting or grasping objects), and muscle stiffness (spasticity).
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
PMD Foundation
Find information about Pelizaeus-Merzbacher disease (PMD), ways to communicate with other families, research information into causes, treatment, prevention and cure of PMD, and much more.