Treatment of Manifestations
Reviews of treatment approaches to CMT [Carter et al 2008, Young et al 2008, Reilly & Shy 2009, Corrado et al 2016] as well as reviews of the diagnosis, natural history, and management of CMT [Pareyson & Marchesi 2009a, Pareyson & Marchesi 2009b, Cornett et al 2017, Sivera Mascaró et al 2024] are available. Guidelines for the management of the pediatric population with CMT have been published [Yiu et al 2022].
Treatment is symptomatic. Affected individuals are often evaluated and managed by a multidisciplinary team that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists [Grandis & Shy 2005, McCorquodale et al 2016].
Quality of life and defining disability have been measured and compared among various groups of individuals with CMT [Burns et al 2010, Ramchandren et al 2015]. Persistent weakness of the hands and/or feet has important career and employment implications; anticipatory counseling is appropriate.
Special shoes, including those with good ankle support, may be needed. Affected individuals often require ankle/foot orthoses (AFOs) to correct foot drop and aid walking. Night splints have not improved ankle range of motion [Refshauge et al 2006, Kenis-Coskun & Matthews 2016].
Some individuals require forearm crutches or canes for gait stability; fewer than 5% of individuals need wheelchairs.
Daily heel cord stretching exercises to prevent Achilles tendon shortening are desirable, as well as gripping exercises for hand weakness [Vinci et al 2005b].
Exercise is encouraged within the individual's capability and many individuals remain physically active [Sman et al 2015].
Orthopedic surgery may be required to correct severe pes cavus foot deformity [Guyton 2006, Casasnovas et al 2008, Ward et al 2008]. Clinical assessment and management approaches to foot deformities that may be associated with CMT are reviewed in Laurá et al [2024]. In a study of 45 individuals with CMT, Chen et al [2025] showed that surgical correction of pes cavus is highly beneficial. Management regarding surgery referral and intervention ideally involves multidisciplinary input (i.e., neurology, physical therapy, and orthopedics). Surgery is sometimes required for hip dysplasia [Chan et al 2006].
The cause of any pain should be identified as accurately as possible [Padua et al 2006].
Modafinil has been used to treat fatigue [Carter et al 2006].
Those at increased risk for vocal cord paralysis (see Table 4) warrant consultation with specialists in otolaryngology at the time of diagnosis; evidence of vocal cord paralysis (hoarseness and/or stridor) at any time warrants periodic monitoring by specialists in otolaryngology to detect vocal cord hypomotility and quantify the degree of airway obstruction, a potentially lethal complication [Zambon et al 2017].
In a study of five individuals with CMT-associated sensorineural hearing loss and auditory neuropathy spectrum disorder, Farber et al [2024] found that cochlear implants were safe and reliable and improved both hearing and speech. Note: Four of the described individuals were from a family with the PMP22 pathogenic variant c.199G>C (p.Ala67Pro) [Kovach et al 1999].
Agents/Circumstances to Avoid
Obesity is to be avoided because it makes walking more difficult.
Medications that are toxic or potentially toxic to persons with CMT comprise a spectrum of risk ranging from definite high risk to negligible risk. See the Charcot-Marie-Tooth Association website (pdf) for an up-to-date list.
Chemotherapy for cancer that includes vincristine may be especially damaging to peripheral nerves and severely worsen CMT [Graf et al 1996, Nishikawa et al 2008].