At a glanceA short record to fill in before an appointment, so nothing gets forgotten in the room. It lists the symptoms that research has linked to CMT2C [3]. Fill it in here, print it or download the PDF, and mark what applies to you.
About me
Since my last visit
Mark one box for each line. Add a note if something is new or worse.
Walking and balance
Arms and hands
Voice, breathing and sleep
Other areas
Why these? They are the features reported in the TRPV4 registry [3] and the clinical summary for TRPV4-related disorders [6], plus swallowing, which the European CMT Federation says is worth checking [84].
Checks and questions
My questions for today
Medicines or supplements I started or stopped
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Your answers can’t be saved in this browser. Print or save as PDF before you leave.
Do not wait for an appointment if you have trouble breathing, noisy breathing, or a sudden change in your voice or swallowing. Seek urgent medical care.
Sources for this guide
- [3]Kosmanopoulos GP, Donohue JK, Hoke M, et al.; Inherited Neuropathies Consortium. “TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.” Brain 2025;148(1):238-251 (online 2024). DOI 10.1093/brain/awae201. academic.oup.com Free full text: pmc.ncbi.nlm.nih.gov
- [6]McCray BA, Schindler A, Hoover-Fong JE, Sumner CJ. “Autosomal Dominant TRPV4-Related Disorders.” GeneReviews, NCBI Bookshelf NBK201366. First posted 2014; last update 4 December 2025. PMID 24830047. ncbi.nlm.nih.gov
- [84]European CMT Federation. “Nutrition and Charcot-Marie-Tooth.” ecmtf.org
Full details of every source are on the Sources page. This guide is patient-written education, not medical advice.