Building your care team

Role: the specialist in diseases of nerves and muscles. Confirms the diagnosis, tracks changes over the years and coordinates the rest of the team [6].

What to expect: a detailed examination of strength, reflexes and feeling, plus nerve conduction studies and EMG, which measure how well nerves and muscles carry signals [6].

Ask about: which yearly checks you need, and whether there are research studies you could join [53]. The CMTA keeps a directory of clinicians with CMT experience [128].

Role: monitors breathing, because CMT2C can weaken the diaphragm [6]. Some lung specialists focus on breathing weakness caused by neuromuscular disease. They are not available everywhere, but if one is within reach, it is worth asking for a referral.

What to expect: breathing tests (spirometry), sometimes chest X-rays taken while you breathe, and a sleep study [6]. If the breathing muscles are weak, what helps is night-time ventilation: a bilevel (BiPAP) machine with a large enough gap between its two pressures, or a home ventilator [288]. CPAP is a different machine. It holds the airway open but does not help weak breathing muscles or treat the under-breathing they cause, so it is not the right choice when they are weak [307]. Some references still list “BiPAP or CPAP” together [6], so if you are offered CPAP, ask whether bilevel support or a ventilator would suit you better.

Worth asking for: breathing tests both sitting and lying down, carbon dioxide measured at night as well as oxygen, and a measure of how strong your cough is. These suggestions come from a review written for neuromuscular disease in general, not for CMT2C specifically [288]. The early signs of weak breathing are listed on the Practical tips page.

Oxygen alone is not safe: if you are ever treated in an emergency, tell the team that you have breathing-muscle weakness. Guidance written for other neuromuscular conditions warns that oxygen given on its own, without breathing support from a bilevel machine or ventilator, can hide or worsen a build-up of carbon dioxide [153]. Breathe with MD, Inc. says oxygen should never be given without constant monitoring of carbon dioxide [126].

Role: checks the voice box (larynx), because vocal fold weakness is common in CMT2C [6].

What to expect: a laryngoscopy, where a small camera looks at your vocal folds while you speak and breathe [6]. In the TRPV4 registry, 85% of people examined by an ENT specialist had vocal fold weakness, compared with 55% overall, so it is often missed until someone looks [3].

Works with: a speech-language pathologist, who can help with the voice [6].

Role: tests hearing once a year, because some people with CMT2C develop hearing loss [6].

What to expect: a hearing test in a sound booth. If hearing loss is found, hearing rehabilitation options are discussed [6].

Role: keeps you moving safely. That includes daily stretching of tight heel cords (Achilles tendons), balance work, moderate strengthening and advice on braces [6].

What to expect: an assessment of strength, flexibility and walking, and a home exercise program. In CMT, moderate resistance and balance training appear safe and helpful, while very high-intensity training is discouraged [56]. A therapist who knows neuromuscular disease is ideal [65], and it is fine to ask whether they have worked with CMT before [127].

More detail is on the Exercise and lifestyle page.

Role: helps with everyday tasks. In the same registry, 49% had difficulty with buttons or zippers [3].

What to expect: ideas and tools that make daily tasks easier, such as button hooks, weighted utensils and jar openers, and sometimes hand splints, so you can stay independent [152].

Role: designs and fits braces. For CMT this is often an ankle-foot orthosis (AFO), a light brace that fits inside the shoe and supports the ankle to help with foot drop [6].

What to expect: measurements and a fitting visit. Custom braces can be made in plastic or carbon fiber [83], and boots or high-top shoes can add ankle stability [83].

Role: looks after the bones and joints: foot shape, contractures (tight joints that no longer move fully), scoliosis and hips [6].

What to expect: X-rays and a discussion of options. Surgery is considered for severe high arches, contractures or scoliosis causing pain or affecting breathing [6].

Role: supports your emotional health. Living with a progressive condition is hard, and talking to someone who understands chronic illness can help. See the emotional health guide.