Physical Medicine and Rehabilitation for Charcot-Marie-Tooth Disease Treatment & Management

Updated: Oct 08, 2021
  • Author: Divakara Kedlaya, MBBS; Chief Editor: Elizabeth A Moberg-Wolff, MD  more...
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Rehabilitation Program

Physical Therapy

Daily heel-cord stretching exercises are desirable to prevent Achilles tendon shortening. Special shoes with good ankle support may be needed. Physical therapy can assist with ambulation and provide necessary evaluation and training with orthoses, such as an ankle-foot orthosis (AFO). [11, 72]

Patients often require an AFO to correct foot drop and to aid walking. [73] It is important to address the biomechanical needs of a CMT patient, since there may be bilateral strength differences due to progression of the disease. Optimizing the mechanical characteristics of the AFO to patient needs can be challenging. One strategy is to design AFOs of varying stiffness and allow patients to experience range energy storage and release characteristics prior to selecting the stiffness they prefer.

Patients with CMT discard AFOs because they highlight their disability, are not essential for their limited daily walking, and are uncomfortable. Prescription of AFOs should be accompanied by psychological support, with note made that research into more comfortable and cosmetically acceptable solutions for the problem of footdrop in CMT is ongoing. [74]

In an email survey by Zuccarino et al regarding AFO satisfaction in persons with CMT, more than one third of participants responded negatively, with patients disliking the appearance of AFOs and suffering from discomfort, abrasions or irritation, and pain. [75]

Custom carbon-fiber composite AFOs have been reported to improve gait of CMT patients [76] AFO prescription appears relevant for improving balance and gait performance in CMT patients, particularly when the model adequately compensates for specific muscle deficits. Custom polypropylene AFOs have shown to improve walking speed and gait parameters in patients with CMT. [77, 78]

Transcutaneous electrical nerve stimulator (TENS) units can be used to improve muscle functions in patients with CMT. [12]

Some patients require the use of forearm crutches or a cane for improved gait stability, but fewer than 5% of patients need wheelchairs. Advise patients with Charcot-Marie-Tooth disease (CMT) about weight management, because obesity makes ambulation more difficult. Encourage exercise within each individual patient's capability. [79] Most patients with CMT usually remain physically active.

A literature review by Sman et al suggested that even though studies have shown exercise-related strength and function changes in patients with CMT, these results should be considered cautiously, since few such studies are available and their quality of evidence is only moderate. [80]

A multicenter, prospective, randomized, single-blind, controlled study by Mori et al of patients with CMT-1A found that an objective benefit could be obtained from stretching and proprioceptive exercise and from treadmill training. Moreover, this could be accomplished without overwork weakness, with the investigators also reporting a low dropout rate and no deterioration in motor performance. [81]

Occupational Therapy

An occupational therapist may recommend the use of adaptive equipment for activities of daily living (ADL) and self-care. Fitting of a proper orthosis and keeping the wrist and hand in functional position may be required. Vocational and avocational training regarding the importance of career and employment implications may be needed because of persistent weakness of the hands and/or feet. [36, 37]


Medical Issues/Complications

In Charcot-Marie-Tooth disease (CMT), no treatment currently exists to reverse or slow the natural disease process for the underlying disorder. Nothing can correct the abnormal myelin, prevent the myelin's degeneration, or prevent axonal degeneration.

Stem-cell and gene-transfer therapies are the most promising forms of treatment for the cure of CMT. [82] Some promising results have been reported for antiprogesterone therapy and ascorbic acid treatment for CMT-1A in animal CMT-1A models. Progesterone-receptor antagonists have reduced PMP-22 overexpression and clinical severity in a CMT-1A rat model. Furthermore, ascorbic acid treatment reduced premature death and demyelination in a CMT-1A mouse model. (A literature review by Gess et al, however, suggested that ascorbic acid does not improve outcomes in adults with CMT-1A, as measured by the neuropathy score at 12 months. [83] ) There is also the prospect of developing drugs to reduce the effects of PMP-22 overexpression in gene duplications by down-regulation via the promoter. Improved understanding of the genetics and biochemistry of the disorder offers hope for an eventual treatment.

Charcot-Marie-Tooth disease increases the risk for complications during delivery, which is linked to a higher occurrence of emergency interventions during birth. [84]

Patients often are evaluated and managed symptomatically by a team that includes a physiatrist, a neurologist, an orthopedic surgeon, and physical and occupational therapists.


Surgical Intervention

Orthopedic surgery may be required to correct severe pes cavus deformities, scoliosis, and other joint deformities. [13, 14, 15]



Consult a specialist in neurogenetics to order specific genetic tests and proper genetic counseling.