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 > Other unknown Charcot Marie tooth (CMT) peripheral neuropathy
Other unknown Charcot Marie tooth (CMT) peripheral neuropathy
Disease Category: Inherited Neuropathies
A rare disorder in which the cause of the disease is unknown. It is either inherited (passed on to a child from one or both parents) or sporadic (occurring spontaneously in an individual over time). The hallmark characteristic is damage to nerve axons (nerve ends) or myelin (fatty coating around nerves) in the extremities. Symptoms include lower leg muscle weakness, sensory loss, and atrophy (wasting); balance problems; hyporeflexia (decreased reflexes); lack of proprioception (spatial awareness of the limbs); and foot deformities requiring ankle braces to support walking.