Practical tips for everyday life

At a glanceThis page gathers practical steps that the medical sources support, plus a few things I have learned myself. Your own care team should tailor all of it to you.

Build your team and your calendar

• Ask for the yearly checks recommended for TRPV4 disease: neurology, physical therapy, ENT with laryngoscopy (a camera check of the vocal folds), breathing tests, a sleep study and a hearing test [6].
• The care team guide explains who does what, step by step, and the printable symptom tracker helps you prepare for each visit.
• If you can, get your care at a CMT Center of Excellence. See why, and where the centers are.
• The Johns Hopkins CMT Center runs a multidisciplinary clinic and takes part in the Inherited Neuropathy Consortium [86].

See a CMT Center of Excellence if you can

A Center of Excellence designated by the Charcot-Marie-Tooth Association (CMTA) is a multidisciplinary clinic led by a CMT specialist. Its team may include neurologists, physical therapists, genetic counselors, orthopedic specialists and other professionals who know CMT, and the CMTA's Clinical Expert Board reviews each designation [85]. The centers offer diagnosis, symptom management, therapy and bracing advice, surgical consultations when needed, and genetic counseling. Some see children, some see adults, and many see both [85].

• Research comes with it. Every Inherited Neuropathy Consortium (INC) site is a Center of Excellence, so you may be offered a chance to take part in research. It is always voluntary and never required for care [85].
• Ask for the designated doctor. When you book, ask for a visit with the CMTA-designated clinic director listed below [85].
• Check before you travel. The designation follows the doctor, not the hospital, so if a doctor moves, the designation moves with them [85]. The CMTA directory has current contact details.

Where they are

In October 2026 the CMTA listed 80 centers: 68 in the United States and 12 in eight other countries [85].

United States (68 centers)

Arkansas

• Arkansas Children’s Hospital, Little RockClinic director: Aravindhan Veerapandiyan, MD

California

• Cedars-Sinai Medical Center, Los AngelesClinic directors: Richard A. Lewis, MD, Melody Badii, MD
• UCLA Health, Los AngelesClinic director: Anasheh Halabi, MD
• Stanford Medicine Children’s Health, Palo AltoClinic directors: John Day, MD, PhD, Ana Tesi Rocha, MD
• Stanford Neuromuscular Program, Palo AltoClinic director: John Day, MD, PhD
• UC Davis Health, SacramentoClinic director: Lisa Williams, MD
• UCSF Benioff Children’s Hospitals, San FranciscoClinic director: Alex Fay, MD, PhD
• UCSF Health, San FranciscoClinic director: Madina Tugizova, MD

Colorado

• Children’s Hospital Colorado, AuroraClinic director: Michele Yang, MD
• University of Colorado Hospital, AuroraClinic director: Vera Fridman, MD

Connecticut

• Connecticut Children’s, HartfordClinic director: Gyula Acsadi, MD, PhD
• Hospital for Special Care, New BritainClinic director: Kevin J. Felice, DO
• Yale School of Medicine, New HavenClinic director: Sasha Zivkovic, MD

District of Columbia

• Children’s National Hospital, WashingtonClinic director: Sarah Wright, DO
• MedStar Georgetown University Hospital, WashingtonClinic director: Noushin Jazebi, MD

Florida

• UF Health, GainesvilleClinic director: James Wymer, MD, PhD
• Mayo Clinic in Florida, JacksonvilleClinic director: Christopher Lamb, MD
• Nicklaus Children’s Health System, MiamiClinic director: Migvis Monduy, MD
• University of Miami Miller School of Medicine, MiamiClinic director: Mario Saporta, MD
• Nemours Children’s Hospital, Florida, OrlandoClinic director: Omer Abdul Hamid, MD
• Johns Hopkins All Children’s Hospital, St. PetersburgClinic director: Matias Lopez Chacon, MD

Illinois

• Northwestern Memorial Hospital, ChicagoClinic director: Daniela Maria Menichella, MD, PhD
• Rush University Medical Center, ChicagoClinic director: Ryan D. Jacobson, MD
• University of Illinois Chicago, ChicagoClinic director: Charles K. Abrams, MD, PhD
• HSHS St. Elizabeth’s Hospital, O’FallonClinic director: Raghav Govindarajan, MD

Iowa

• University of Iowa Health Care, Iowa CityClinic director: Michael E. Shy, MD

Kentucky

• Kentucky Neuroscience Institute, LexingtonClinic director: Nakul Katyal, MD
• University of Louisville School of Medicine, LouisvilleClinic director: Zeng Y. Wang, MD, PhD

Maryland

• The Johns Hopkins CMT Center, BaltimoreClinic directors: Charlotte Sumner, MD, Bipasha Mukherjee-Clavin, MD, PhD

Massachusetts

• Massachusetts General Hospital Neuromuscular Diagnostic Center, BostonClinic director: Reza Seyedsadjadi, MD

Michigan

• University of Michigan Health, Ann ArborClinic directors: Gary Gallagher, MD, Brett McCray, MD, PhD

Minnesota

• M Health Fairview, Maple GroveClinic director: David Walk, MD

Missouri

• MU Health Care, ColumbiaClinic director: Vovanti Jones, MD
• Washington University School of Medicine in St. Louis, St. LouisClinic director: Stefanie Geisler, MD

Nebraska

• CHI Health Clinic Neurological Institute (Immanuel), OmahaClinic director: Yu-Ting Chen, MD

New Jersey

• Hackensack University Medical Center, HackensackClinic director: Florian Thomas, MD, PhD

New York

• University of Rochester CMT Inherited Neuropathy Clinic, RochesterClinic director: David Herrmann, MD

North Carolina

• UNC Health, Chapel HillClinic director: Rebecca Traub, MD
• Atrium Health Neurosciences Institute, CharlotteClinic director: Urvi Desai, MD
• Duke University Hospital, DurhamClinic director: Natalie Katz, MD

Ohio

• Cincinnati Children’s Hospital Medical Center, CincinnatiClinic director: Meghan McAnally, MD, MPH
• University of Cincinnati Gardner Neuroscience Institute, CincinnatiClinic director: Hani Kushlaf, MD, FAAN, FANA, FAANEM
• Nationwide Children’s Hospital, ColumbusClinic director: Zarife Sahenk, MD, PhD
• The Ohio State University Wexner Medical Center, ColumbusClinic director: Michael Isfort, MD

Pennsylvania

• Penn State Health Golisano Children’s Hospital, HersheyClinic director: Ashutosh Kumar, MD
• Penn State Health Milton S. Hershey Medical Center, HersheyClinic director: Mansoureh Mamarabadi, MD
• Children’s Hospital of Philadelphia, PhiladelphiaClinic director: Sabrina Yum, MD
• Perelman School of Medicine at the University of Pennsylvania, PhiladelphiaClinic director: Chafic Karam
• UPMC Children’s Hospital of Pittsburgh, PittsburghClinic director: Hoda Abdel-Hamid, MD
• UPMC Department of Neurology, PittsburghClinic director: Joshua Smith, DO

South Carolina

• Medical University of South Carolina (MUSC), CharlestonClinic director: Sarah Breevoort, MD, PhD

Texas

• Austin Neuromuscular Center, AustinClinic director: Yessar Hussain, MD
• Kane Hall Barry Neurology, BedfordClinic director: Sharique Ansari, MD, MPH
• Children’s Health and UT Southwestern Medical Center, DallasClinic directors: Kaitlin Batley, MD, Zurisadai Gonzalez-Castillo, MD
• UT Southwestern Medical Center, DallasClinic director: Jaya Trivedi, MD
• Baylor College of Medicine, HoustonClinic director: Thomas Lloyd, MD, PhD
• Houston Methodist Hospital, HoustonClinic director: Jun Li, MD, PhD, FANA, FAAN
• Kane Hall Barry Neurology, KellerClinic director: Sharique Ansari, MD, MPH

Utah

• Intermountain Primary Children’s Hospital, Salt Lake CityClinic director: Russell Butterfield, MD, PhD
• Shriners Children’s Salt Lake City, Salt Lake CityClinic director: Russell Butterfield, MD, PhD
• University of Utah Health, Salt Lake CityClinic director: Russell Butterfield, MD, PhD

Virginia

• UVA Health, CharlottesvilleClinic director: Francesco Michelassi, MD, PhD
• Children’s Hospital of Richmond at VCU, RichmondClinic director: Amy Harper, MD
• Virginia Commonwealth University (VCU), RichmondClinic director: Nicholas Johnson, MD
• Carilion Clinic, RoanokeClinic director: Lydia Sharp, MD

Washington

• Seattle Children’s Hospital, SeattleClinic director: Seth Perlman, MD
• Swedish Neuroscience Institute, SeattleClinic director: Christyn Edmundson, MD
• UW Medical Center – Montlake, SeattleClinic director: Michael Weiss, MD

Other countries (12 centers)

Australia

• The Children’s Hospital at Westmead, SydneyClinic director: Manoj Menezes, MD

Belgium

• Neuromusculair Referentiecentrum (NMRC), AntwerpClinic director: Peter De Jonghe, PhD

Canada

• The Hospital for Sick Children (SickKids), TorontoClinic director: Hernan Gonorazky, MD
• University Health Network (UHN), Prosserman Centre for Neuromuscular Diseases, TorontoClinic director: Hans Katzberg, MD, MSc, FRCPC

Germany

• Uniklinik RWTH Aachen, AachenClinic director: Maike Dohrn, MD

Ireland

• Tallaght University Hospital, DublinClinic director: Sinéad Murphy

Italy

• Fondazione IRCCS Istituto Neurologico Carlo Besta, MilanClinic director: Davide Pareyson, MD

Thailand

• Faculty of Medicine Siriraj Hospital, Mahidol University, BangkokClinic director: Oranee Sanmaneechai, MD

United Kingdom

• Queen Elizabeth University Hospital, GlasgowClinic director: Katie Brennan, MD, PhD
• Dubowitz Neuromuscular Centre, Great Ormond Street Hospital (GOSH), LondonClinic director: Francesco Muntoni, MD
• Queen Square Centre for Neuromuscular Diseases, LondonClinic director: Mary M. Reilly, MD
• St George’s University Hospitals NHS Foundation Trust, LondonClinic directors: Niranjanan Nirmalananthan, PhD, Emma Matthews, PhD

Protect your voice and breathing

• Vocal fold weakness was found in 85% of TRPV4 registry participants who were examined by an ENT specialist, compared with 55% overall [3]. If you have never had your vocal folds examined, it is worth asking.
• Upper respiratory infections cause vocal fold swelling and can worsen airway obstruction [6].
• Difficulty breathing when lying flat and sleep apnea can occur [6].

CPAP and weak breathing muscles

Some adults with neuromuscular disease are prescribed CPAP, and some are told they must first “fail” CPAP before they can try anything else [312]. Breathe with MD, a charity for people with neuromuscular breathing weakness, explains why CPAP can be a problem [312]:

• It treats a problem most people with weak muscles do not have. CPAP works like an air splint that holds the airway open. People with neuromuscular disease generally do not have trouble keeping the airway open, and if they do, bilevel support can deal with that as well [312].
• It does not move air. Weak breathing muscles need help moving air in and out of the lungs, which is called ventilation. CPAP does not do that, so it cannot treat under-breathing (hypoventilation) during sleep [307].
• It is hard to breathe out against. A pressure high enough to fill the lungs can make breathing out uncomfortably hard for weak muscles [312].
• It does not fix a carbon dioxide build-up. When under-breathing has already raised carbon dioxide in the lungs and blood (hypercapnia), CPAP will not bring it down, and in some cases can make it worse [312].
• It adds work instead of resting the muscles. CPAP increases the effort of breathing, while the goal with weak breathing muscles is to reduce that effort and rest them during sleep [312].

What helps instead: ventilation. Bilevel support (often called BiPAP or BPAP) gives a higher pressure to breathe in and a much lower pressure, or none, to breathe out. A portable home ventilator can do the same. Set up properly for the person, bilevel ventilation treats under-breathing and the carbon dioxide build-up it causes [312]. In muscle disease, the gap between the two pressures is usually large, to help the muscles that breathe in and leave little or no resistance when breathing out [311]. A backup breathing rate is preferred, and volume-assured modes (VAPS) are another option [307]. The American College of Chest Physicians' 2023 guideline recommends non-invasive ventilation (breathing support through a mask or mouthpiece) for people with neuromuscular disease whose breathing is failing [308].

If you have been offered CPAP. Some general references, including the main clinical summary on TRPV4 disease, still list “BiPAP or CPAP” together [6]. If you have any sign of breathing-muscle weakness, ask a lung specialist who treats neuromuscular disease whether bilevel support or a ventilator would suit you better. CPAP is meant for a blocked airway, such as obstructive sleep apnea on its own, in people whose breathing is otherwise normal, and testing is needed to confirm this [288].

Quotes you can share with a clinician. Breathe with MD's CPAP Clarification and Advocacy Sheet collects quotes from medical articles, each with a link, for exactly this purpose [312]. Here are two that I checked against the original articles:

• “Continuous positive-airway pressure (CPAP) is not adequate to treat hypoventilation that occurs with NMD.” (Graustein, Carmona and Benditt, 2023) [307]
• Dr. John Bach told the Muscular Dystrophy Association that weak patients need “very high-span BiPAP or use of portable ventilators to fully rest muscles”, and “not CPAP, oxygen or low-span BiPAP” [311].

Spotting weak breathing early

Breathing-muscle weakness usually shows up first at night, during sleep [288]. Signs to mention to your doctor include shortness of breath or anxiety when lying down, restless sleep, waking often, waking tired after a full night, a headache on waking that goes away within minutes, repeated chest infections and sleepiness during the day [289]. They can creep up slowly, so they are easy to put down to something else.

Here are three things worth asking for at your breathing checks, from a specialist's review of breathing care in neuromuscular disease [288]:

• Test sitting and lying down. Vital capacity (how much air you can blow out after your deepest breath) normally falls by no more than 7.5% when you lie down. A bigger drop points to a weak diaphragm, often before anything shows when you are sitting up.
• Measure carbon dioxide at night, not only oxygen. Sleep studies are built for sleep apnea and can read weak breathing as apneas.
• Measure the strength of your cough. A peak flow meter can measure how hard you can cough. About 160 liters a minute is the minimum for an effective cough.

A handout to print or share. Morning headaches and breathing (PDF, 3 pages) puts these signs on one checklist, explains the first two tests above and gives you words to use with your doctor.

Getting ready for colds and surgery

• Colds are the usual trigger. In neuromuscular disease, breathing crises most often start with an ordinary cold that turns into pneumonia because the cough is too weak to clear mucus [288]. If your cough is weak, ask about air stacking (filling the lungs with several breaths from a hand-squeezed bag) and a cough assist machine [288]. It is easier to ask while you are well than in the middle of an infection.
• Before surgery or sedation, tell the anesthesiologist about your vocal folds and your breathing. Articles on anesthesia in neuromuscular disease stress a careful assessment before the operation, close monitoring during and after it, and breathing support ready afterward if needed [290].

These points come from research on neuromuscular disease in general, mostly from one specialist's review, and none has been tested in CMT2C. Your own lung specialist will know what fits you. Breathe with MD, a patient-run charity, explains each step in more detail [289].

A free course on breathing weakness. Stephanie Carmody, who lives with TRPV4 breathing weakness, highly recommends Breathe with MD's online course “Breathing Muscle Weakness 101”. She took it herself and, although she already knew a lot, learned new things. She finds the teaching clear. She suggests sharing it with family members who have breathing weakness too. The course is free, self-paced and mostly video, for adults living with a neuromuscular disease and their loved ones (not for clinicians). The 2026 course is open until 31 December, with a limited number of places [306].

Look after your feet and skin

• Inspect your feet daily, because reduced sensation can hide injuries [83].
• Boots or high-top shoes can add ankle stability, and ankle-foot orthoses (a type of brace) can be custom-made in plastic or carbon fiber [83].

Bracing: what I learned

• If you get custom braces, ask early whether the provider bills your insurer, or whether you pay up front and file the claim yourself.
• The Hereditary Neuropathy Foundation (HNF) has guides on bracing, mobility aids, home accessibility, legal rights and insurance [87].

Self-compassion: what helps me

For what the research says about mindfulness and compassion meditation for pain, see Pain and mental health. My personal picks include a teacher whose work I find genuinely helpful.

Move, within your limits

Exercising within your own limits is encouraged [6], and the consistent advice from CMT organizations is moderate, low-impact activity tailored to you [65].

The movement guide has a decision guide, illustrated exercises and plans for different kinds of weeks.

Know your variant and share it

• Know your specific variant. Your variant is the exact change in your TRPV4 gene. Trials recruit by genetic subtype, so a confirmed genetic diagnosis is essential [53].
• A genetic diagnosis may not change your care today, but it means you are ready when a trial for your type opens.
• If you already know your variant, joining a patient registry helps researchers study it [55].

Family planning and relatives

• Each child of an affected parent has a 50% chance of inheriting the variant [6].
• A relative who seems unaffected may still have the variant. Signs can be so mild that they are missed or put down to aging, and noticeable symptoms can start later in life [6]. Genetic testing is the only way to know for sure.
• Genetic counseling is recommended [6]. HNF's CMT Genie program offers telehealth genetic counseling and testing for a fee [88].

If you are thinking about having children

Fertility specialists say these decisions should be supported without pressure in either direction. Their guidance calls a non-directive approach “crucial to support patient autonomy”, and notes that some people feel a particular risk is acceptable to them, while others decide the cost or effort of testing outweighs the benefit [296].

The options they list are [296]:

• Having a child without testing, knowing the 50% chance [6].
• Testing during pregnancy, using a small sample from the placenta (chorionic villus sampling, or CVS, from about 11 weeks) or from the fluid around the baby (amniocentesis, from about 15 weeks). Both slightly raise the chance of miscarriage [298].
• IVF with embryo testing (PGT-M), which lets you prevent CMT2C from being passed on: only an embryo without your family’s TRPV4 change is placed in the womb [297]. There is more on this below.
• Donor eggs, sperm or embryos, or adoption [296].

IVF with PGT-M: preventing CMT2C from being passed on

IVF with PGT-M is a way to have a child who is genetically yours without passing on your family’s TRPV4 change [297].

PGT-M (preimplantation genetic testing for monogenic conditions, once called PGD) checks embryos for one specific genetic change before pregnancy begins. The embryos have to be tested in a lab, so it always means IVF, even for people with no fertility problems. Only an embryo without the change is placed in the womb [297].

• It needs a known variant. Before IVF starts, the lab designs a custom test for your family's exact TRPV4 change, a process that can take a few weeks to a few months [296]. This is another reason to know your variant.
• It is very accurate, but not perfect. One hospital service reports that the test finds more than 99 in 100 affected embryos [299]. Because a small chance of error remains, CVS or amniocentesis is offered to confirm the result during pregnancy, and it is your choice whether to have it [296].
• It does not always lead to a baby. Sometimes no embryo is suitable, for example when too few eggs are collected or all the embryos carry the change [297]. The process can take several months, the medicines and injections can cause side effects, and some people find it emotionally difficult [299].
• A possible extra benefit: spare embryos. IVF can create more embryos than a family ends up using, and they can stay frozen while you decide [301]. If you are sure you will not use them, the options include donating them to another person or couple who cannot have a child with their own eggs or sperm, donating them to research, or letting them go [302]. Embryo research is what made IVF possible in the first place [302]. In the UK, research donation depends on your clinic working with an approved project [302]. Donating to others involves screening and counseling for everyone involved, and what is allowed differs by country, state and clinic [301]. In the US, donation can be anonymous, or open to the degree you choose: from sharing medical or genetic updates through a private email or a go-between, to a fully open arrangement where the families visit and talk often [316]. Both families are advised to agree on future contact before donating, with counseling and a legal agreement [301]. None of these choices is required. Letting go of frozen embryos can be hard, whatever you decide, and in the UK you can change your mind about donating at any stage until the embryos have been used [302].
• Cost and funding vary. The fertility specialists' guidance lists insurance coverage, discounted testing and ways to keep costs down among the things to weigh when choosing a testing laboratory [296]. In the UK, NHS funding is decided case by case [298].
• It has worked for CMT2C. There are confirmed cases of IVF with PGT-M being used successfully to stop CMT2C from being passed on to a child. A published 2025 study from Korea included 13 families with other types of CMT who went through PGT-M. Of 19 embryo transfers, 15 led to pregnancies, and testing in pregnancy confirmed that every baby was unaffected. No TRPV4 families were included [300].

One thing is particular to CMT2C. How severe it would be in a child “cannot be accurately predicted” [6], and tests in pregnancy cannot show how serious CMT will be either [298]. People weigh that uncertainty differently, and that is part of why the decision belongs to you.

A good first step is to see a genetic counselor, who can talk through every option, including the ones you are unsure about, without expecting you to choose any of them [298].

Next: Exercise and lifestyle