Frequently asked questions

Not yet. No disease-modifying therapy (a treatment that slows or stops the disease itself) exists for any form of CMT [5]. Care for TRPV4 disease focuses on managing symptoms, with a team of specialists from different fields [6].

Yes. ABS-0871, an oral TRPV4 inhibitor, has completed a Phase 1a study in healthy volunteers [4]. A trial in people with CMT2C was listed as planned and not yet recruiting in October 2026 [34].

As of October 2026, no recruiting patient trial had been confirmed [34]. The best preparation is a confirmed genetic diagnosis and enrollment in registries and natural history studies [53]. The company developing ABS-0871 has a new name, coming soon. Future trial sites in Europe are proposed, but no dates are known yet. I will keep the trials page updated with the latest timelines.

Each child has a 50% chance of inheriting the variant [6]. Severity cannot be accurately predicted from the gene result [6]. If you are thinking about having children, the options, from having a child without testing to IVF with embryo testing (PGT-M), are set out without judgment on Practical tips.

Variable severity within families is well documented [18]. Signs can be so mild that they go unrecognized, and noticeable symptoms can begin later in life [6]. What determines how severe someone's CMT2C becomes is not known.

It means there is not yet enough evidence to say whether the variant causes disease. The result neither confirms nor rules out a genetic cause [205]. Your symptoms still deserve care, and the classification can change as evidence grows. My page on TRPV4 variants explains how reclassification works and what you can do.

Diagnosis is made by sequencing the TRPV4 gene [6]. Genetic counseling services such as CMT Genie can arrange testing [88].

In mild forms lifespan is normal. In severe forms it can be shortened by respiratory complications, which is why monitoring of breathing matters [6].

The sources reviewed for this site describe CMT2C as a disorder of the peripheral nerves, voice, breathing, hearing and skeleton [6], and none of them lists cognitive problems as a feature.

Voice box (larynx) problems are a hallmark of the disease, and breathing difficulties arise from diaphragm weakness [6]. The underlying reason is not established. Mouse research points to regional damage in the spinal cord [15].

Exercise within your capability is encouraged [6]. Small trials in CMT suggest that moderate resistance, aerobic and balance training are feasible and helpful, while high-intensity training is discouraged [56].

None has been tested in CMT2C, which mostly means nobody has checked yet. Creatine showed no benefit in two small CMT trials [94], vitamin C failed in six CMT1A trials [77], and too much vitamin B6 can itself damage nerves [58]. A missing study is not proof that a supplement cannot help: if one has few side effects and might help, it is reasonable to read up, talk to your doctor or pharmacist and decide for yourself [136]. Tell your doctor everything you take, and stay within the label dose. The Supplements page goes through the evidence one supplement at a time.

The Charcot-Marie-Tooth Association (CMTA) lists vincristine and paclitaxel as the two drugs with evidence-backed potential for harm [35]. Discuss any new medicine with your clinicians.

Yes. People with TRPV4-related conditions have their own Facebook group [105], and CMT organizations such as the CMTA, the Hereditary Neuropathy Foundation and the CMT Research Foundation welcome people with every type of CMT. See Organizations supporting CMT and the emotional health guide.

If you can, to a CMT Center of Excellence. These multidisciplinary clinics are led by CMT specialists, and there are dozens in the United States and others in Canada, the United Kingdom, Ireland, Germany, Belgium, Italy, Australia and Thailand [85]. I think they are worth making a priority. See why, and the full list.

Join a natural history study [52], register with CMTA Patients as Partners in Research [54] and the Global Registry for Inherited Neuropathies (GRIN) [55], and consider a Center of Excellence [85]. To see how your variant is classified and what has been reported about it, read TRPV4 variants.