References and resources

Patient organizations

Show all 14 links

• Hereditary Neuropathy Foundation (HNF) / CureCMT: CMT2C page. A dedicated CMT2C page with a clear, plain-language overview.
• HNF GRIN registry. Patient-led global registry for inherited neuropathies. Free and open worldwide.
• HNF Patient Resources hub. Guides on bracing, mobility aids, home accessibility, legal rights, insurance and school accommodations.
• Charcot-Marie-Tooth Association (CMTA): “How the CMT2C Community Is Driving the Path to Treatment” (22 June 2023). Report of a CMT2C focus group with Actio Biosciences.
• CMTA: Patients as Partners in Research. Sign up to hear about trials, surveys and focus groups.
• CMTA: CMT Type 2 page. An overview of type 2 CMT, including CMT2C.
• CMTA Facebook groups. Five CMT groups that welcome people with every type of CMT, including CMT2C.
• CMT Research Foundation (CMTRF): CMT2 guide. Lists CMT2C among the CMT2 subtypes.
• Muscular Dystrophy Association (MDA). General CMT information and a resource center. See its CMT overview and CMT2 types pages.
• CMT UK. UK charity offering support and information.
• CMT Australia. Australian association offering support, newsletters and a national conference.
• European CMT Federation. Umbrella group of national CMT organizations.
• Charcot-Marie-Tooth News. Patient-oriented news site.
• Inspire CMT community. An online forum where people with CMT support each other.

For a fuller introduction to each organization and how it supports people with CMT2C, see Organizations supporting CMT. People with TRPV4-related conditions also have their own peer group on Facebook: TRPV4 Related Hereditary Neuropathies (CMT2C, SPSMA & CDSMA) [105].

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Medical references

• GeneReviews: “Autosomal Dominant TRPV4-Related Disorders” (updated 4 December 2025). The most authoritative clinical reference, written by the Johns Hopkins team.
• GARD (NIH): Charcot-Marie-Tooth disease axonal type 2C. Patient-friendly summary.
• Orphanet ORPHA:99937. European rare disease reference with links to expert centers.
• NORD: Charcot-Marie-Tooth disease axonal type 2C. Short definition with links.
• MedlinePlus Genetics: TRPV4 gene (last updated 2013, so dated).
• MedlinePlus Genetics: Charcot-Marie-Tooth disease (updated May 2026).
• NINDS: Charcot-Marie-Tooth Disease (reviewed September 2026).
• OMIM #606071 (HMSN2C / CMT2C).
• OMIM *605427 (TRPV4 gene).
• ClinVar: TRPV4 variants.

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Research centers and studies

• The Charcot-Marie-Tooth Center, Johns Hopkins. Multidisciplinary adult and pediatric clinic; part of the Inherited Neuropathy Consortium.
• Sumner Lab, Johns Hopkins. TRPV4 research projects, including the role of TRPV4 in blood vessel lining cells.
• The McCray Lab, University of Michigan. Dr. Brett McCray’s lab focuses on TRPV4 neuropathy, including CMT2C. It studies how TRPV4 changes cause disease, tests in the lab whether uncertain variants are harmful, and worked with the Inherited Neuropathy Consortium to set up the TRPV4 registry and natural history study.
• “Meet the Innovator: Charlotte Sumner, MD” (April 2024). Describes the TRPV4 natural history study.
• Inherited Neuropathy Consortium (INC). A network of academic medical centers and patient organizations doing CMT clinical research, now funded by the CMTA.
• INC 6601 natural history study. Open to all CMT types; lists sites and contacts.
• CMTA Centers of Excellence directory. Searchable list of multidisciplinary CMT clinics.
• ClinicalTrials.gov: “The Natural History of TRPV4 Neuropathy” (NCT05600764). The Johns Hopkins study listing: who can take part, what each visit involves and whom to contact.
• CMTA: “Natural History of TRPV4 Neuromuscular Disease: CMT2C.” A clear, patient-friendly explanation of the Johns Hopkins study and how to take part.

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Clinical trial trackers

• CMT Research Foundation 2026 Annual Research Report (September 2026). The CMT trial pipeline and newly funded research, including a Johns Hopkins study looking for a CMT2C blood test.
• CMTRF CMT Clinical Trials tracker. Listed ABS-0871 as planned and not yet recruiting in October 2026.
• ClinicalTrials.gov search for TRPV4.
• ClinicalTrials.gov search for CMT2C.
• Actio Biosciences programs page. Company description of ABS-0871.
• Jazz Pharmaceuticals press release (10 August 2026). Announces the acquisition and the ABS-0871 spin-out. The new company’s name is coming soon.
• CMTRF research pipeline.
• FDA: Expanded Access information for patients.

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Key research papers

Show all 21 papers, grouped by topic

Discovery

• Landouré G, et al. (2010). “Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.” Nature Genetics.
• Deng H-X, et al. (2010). “Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.” Nature Genetics.
• Auer-Grumbach M, et al. (2010). “Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.” Nature Genetics.

Clinical picture

• Kosmanopoulos GP, et al. (2025). “TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.” Brain. The largest cohort to date.
• Berth SH, et al. (2025). “Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.” Brain.
• Deng S, et al. (2020). “Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.” NeuroMolecular Medicine.
• Zimoń M, et al. (2010). “Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.” Brain.
• Ürel-Demir G, et al. (2021). “Natural history of TRPV4-related disorders: From skeletal dysplasia to neuromuscular phenotype.” European Journal of Paediatric Neurology.
• Echaniz-Laguna A, et al. (2014). “Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.” Neurology.
• Chen D-H, et al. (2010). “CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.” Neurology.

Mechanism

• Sullivan JM, et al. (2024). “Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.” Science Translational Medicine.
• McCray BA, et al. (2021). “Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension.” Nature Communications.
• Woolums BM, et al. (2020). “TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+.” Nature Communications.
• Kwon DH, et al. (2023). “TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease.” Nature Communications.
• Sampaio G, et al. (2025). “The impact of TRPV4 pathogenic mutations on barrier integrity.” Human Molecular Genetics.
• Nilius B, Voets T (2013). “The puzzle of TRPV4 channelopathies.” EMBO Reports.
• Taga A, et al. (2022). “TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.” Annals of Clinical and Translational Neurology.
• Klein CJ, et al. (2011). “TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.” Neurology.
• Liedtke W (2026). “25+ Years of TRPV4: From Discovery to Translational Horizons.” Preprint, not peer reviewed.

CMT in general

• Burns J, et al. (2026). “Charcot-Marie-Tooth disease and related neuropathies.” Nature Reviews Disease Primers.
• Cavaletti G, et al. (2023). “Toxic medications in Charcot-Marie-Tooth patients: A systematic review.” Journal of the Peripheral Nervous System.

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Videos, webinars and conferences

• “CMT2C/TRPV4 Meeting with Actio Biosciences” (YouTube, CMTA channel). Recorded on 3 December 2025: a clinical trial update for the CMT2C/TRPV4 community from Actio Biosciences, leading CMT2C experts and the CMTA [103].
• “CMTA 2C & TRPV4 Patient Meeting | Dec 6, 2024” (YouTube, CMTA channel). The CMTA’s meeting for the CMT2C/TRPV4 community a year earlier [293].
• “Preparing for Clinical Trials in CMT2C: Challenges, Insights, and Unanswered Questions” (YouTube, CMT Research Foundation channel). A talk on getting ready for CMT2C trials [292].
• “CMT2C: Mutations in TRPV4” (YouTube, CMT Research Foundation channel). Dr. Brett McCray (then at Johns Hopkins) explains how TRPV4 changes cause CMT2C [291].
• “Exciting Progress in Clinical Trials for CMT” (YouTube, CMTA channel). A session on CMT clinical trials from the 2025 CMTA Patient & Research Summit [294].
• “TRPV4 HN FB Group Johns Hopkins Meeting” (YouTube, TRPV4 HN Group channel). The patient group’s meeting with the Johns Hopkins team on 4 November 2022 [295].
• CMTA: Breathing and Respiratory Care. Education on CMT-related breathing weakness, including a video with lung specialist Dr. Ashraf Elsayegh.
• CMTRF videos. CMT 101 series, webinars and convention playlists. Two talks on CMT2C by Dr. Brett McCray are listed above.
• 2026 Global CMT Research Convention. Held 24 to 26 September 2026; recordings were not yet posted when checked.
• CMTA conference recordings. Includes a 2024 session on CMT-related breathing issues and a 2023 session on genetic testing.
• HNF CMT-Connect webinars. General research and genetics webinars.

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My personal picks

Resources I use myself and find genuinely helpful. They are my personal choices, not medical advice.

• Kelly McGonigal. A health psychologist and lecturer at Stanford University [282]. Her central message suits life with CMT2C: any movement you are capable of, whether a short walk, chair yoga, stretching or swimming, can lift your mood and help you feel connected to others. It does not have to be intense to count. My favorites:
  • The Joy of Movement (2019): how movement, in whatever form your body allows, supports hope, joy and belonging [283].
  • Yoga for Pain Relief (2009): gentle yoga postures, relaxation practices and psychological techniques for living with chronic pain [284].
  • The Willpower Instinct (2011): practical, science-based strategies for building self-control and motivation [285].
  • The Neuroscience of Change (audio course): how to make lasting changes in habits and mindset [286].
  • Choose to Change: Six Weeks to Take Charge of Your Habits, Goals, and Emotional Patterns (audio course): six weeks on changing a habit, whether breaking an old one or building a new one, built around your core values, small gradual changes and guided meditations [287].

As with any exercise or yoga practice, adapt what you try to your own strength and balance, and check with your physical therapist first [65].

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Genetic testing and practical support

• CMT Genie (HNF with InformedDNA). Telehealth genetic counseling and testing; fees apply.
• CMTA: Genetics of CMT (Ask the Expert). Inheritance, testing and family planning.
• MDA: Genetic Testing Options for CMT (PDF, 2023). A helpful overview of testing routes; please check with MDA for the programs available today.
• National Society of Genetic Counselors (NSGC): Find a Genetic Counselor.
• CMTA: Neurotoxic Medications. The current two-drug caution list.