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.
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All Diseases > Charcot Marie tooth disease CMT1A
Charcot Marie tooth disease CMT1A
Disease Category: Inherited Neuropathies
An autosomal dominant (inherited from one parent) disorder due to PMP22 gene mutation which causes demyelination, or problem with myelin (the fatty coating) around extremity nerves. Symptoms usually manifest in late adolescence, including weakness, sensory loss, and muscle atrophy (wasting) of the lower legs; balance problems; hyporeflexia (decreased reflexes); lack of proprioception (spatial awareness of the limbs); and foot deformities requiring ankle braces to support walking.