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 > Charcot Marie tooth disease CMT1B
Charcot Marie tooth disease CMT1B
Disease Category: Inherited Neuropathies
An autosomal dominant (inherited from one parent) disorder due to MPZ gene mutation which causes demyelination, or loss of myelin (the fatty coating) around extremity nerves. Symptoms manifest in early infancy (severe) or in adulthood (mild), including weakness, sensory loss, and muscle atrophy (wasting) of the lower legs; delayed walking in the infantile type; balance problems; hyporeflexia (decreased reflexes); lack of proprioception (spatial awareness of the limbs); and foot deformities requiring ankle braces to support walking.