CMT 2C, resulting from mutations in the TRPV4 gene, is one of the rarest and most severe types of Charcot Marie Tooth Disease. It is closely related to allelic disorders Scapuloperoneal Spinal Muscular Atrophy and Congenital Distal Spinal Muscular Atrophy, with many shared and overlapping symptoms (these three clinical disorders are often considered one disorder, TRPV4 related Hereditary Neuropathy, with a spectrum of severity). The effects of this disorder can include leg, arm, and hand weakness and paralysis, vocal chord paresis, diaphragm and intercostal muscle weakness and paralysis, and sensorineural hearing loss.
Fortunately, there is optimism about potential treatments because CMT 2C is a disease of the ion channels (controlled by the well known TRPV4 gene), which sit on top of cells, making the proteins an easy target for treatments. We are pursuing inclusion in Patient Reported Outcomes Natural History Study for 2017-2019 to help find a cure.
Important Research Articles on CMT 2C
TRPV4-Associated Disorders – May 2014
The puzzle of TRPV4 channelopathies – Jan. 2013
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