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 CMT2A
Charcot Marie tooth disease CMT2A
Disease Category: Inherited Neuropathies
An autosomal dominant (inherited from one parent) disorder due to MFN2 gene mutation affecting nerve axons (ends of the nerves) which carry signals from the brain to the extremities. Symptoms are more severe with earlier onset, including weakness, sensory loss, and muscle atrophy (wasting) of the lower legs; balance problems; hyporeflexia (decreased reflexes); and foot deformities requiring ankle braces to support walking. A few symptoms impact the central nervous system, including thinning of the spinal cord, hearing loss, and vision loss due to optic nerve atrophy.