CMT2C, 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 CMT2C 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.

Objectives for 2017-2019

  • Patient Reported Outcomes Natural History Study

The Long Road to Diagnosis Renews Dedication to Advocacy

Growing up we called it “Steffi disorder.” My friends and family were as baffled as my expert neurologists. I had been diagnosed with typical Spiral Muscular Atrophy (SMA) as a toddler but never followed its progression; I never seemed to get weaker. My myriad of symptoms was distinctly different than anyone else’s I had ever met in a lifetime living in the neuromuscular community. I thought I might never find my true diagnosis, let alone others who share it with me.

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