“It is my mission to be part of the effort – we need your to help to get there.” ~ Stephanie, lives with CMT 2C
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.
Important Research Articles on CMT 2C
Neuropathy-causing TRPV4 mutations disrupt
TRPV4-RhoA interactions and impair neurite extension – March 2021
TRPV4 disrupts mitochondrial transport and
causes axonal degeneration via a CaMKIIdependent elevation of intracellular Ca2+ – May 2020
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C – Dec. 2009
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C – Feb. 2010
TRPV4-Associated Disorders – May 2014
The puzzle of TRPV4 channelopathies – Jan. 2013
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.
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