As part of CMT Awareness Month and its year-round commitment to educating health care professionals, the Hereditary Neuropathy Foundation sponsored a course on Charcot-Marie-Tooth disease (CMT) at the annual meeting of the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM), held September 14 to 17, 2011 in San Francisco.

The AANEM is a nonprofit membership association dedicated to the advancement of neuromuscular, musculoskeletal, and electrodiagnostic medicine. With more than 5,000 members, including neurologists, physiatrists, and researchers, the AANEM works to improve the quality of medical care for patients with muscle and nerve disorders.

Through its National CMT Resource Center, HNF provided four CMT specialists to lead sessions on practical clinical topics. The sessions are summarized below.

Pediatric Surgery and CMT

Robert Bernstein, MD, Chief of Pediatric Orthopaedics at Long Island Jewish Medical Center, opened with a discussion of the early signs of CMT in children, including pes valgus (turning of the foot outward), uneven gait, and difficulty with coordination and balance. Because these signs are also common in the general population, early CMT is frequently missed. Weakness and deformity progress over time, and further testing can lead to an accurate diagnosis.

Dr. Bernstein outlined a range of treatment options, starting with noninvasive approaches such as stretching, splinting, and strengthening of the lower leg. Bracing can serve as an early intervention before surgery is considered. When surgery is needed, options include tendon transfers and osteotomies (cutting and reshaping the bone). In more severe cases, triple arthrodesis, a fusion of certain foot bones to restore a flat, stable position, may be required. Early intervention with less invasive procedures may reduce the likelihood of needing triple arthrodesis later.

Dr. Bernstein also stressed the importance of screening children and teens with CMT for two related conditions: scoliosis (curvature of the spine) and hip dysplasia. Early detection allows for earlier intervention.

Physiotherapy, Exercise, and Nutrition

Robert Chetlin, PhD, CSCS, HFI, Associate Professor at West Virginia University, addressed common concerns about exercise for people with CMT. Contrary to the frequent caution to avoid strenuous activity, Dr. Chetlin presented evidence that resistance training produces measurable benefits. Studies show that resistance training programs of at least 12 weeks can improve strength, functional ability, aerobic capacity, and body composition in adults with CMT. Research also indicates that people with CMT face an elevated risk for cardiovascular disease, making regular activity especially important.

One study found that some people with CMT could exercise at higher intensities than previously assumed without adverse effects, and that participants improved both maximal oxygen consumption and overall exercise capacity.

Dr. Chetlin emphasized that each person with CMT should be individually assessed for exercise capacity by a physical therapist, a trainer familiar with CMT, or another health care professional. Contraindications such as cardiopulmonary disease, poorly controlled diabetes, or hypertension need to be ruled out first. People with significant orthopedic limitations or muscle weakness may see reduced benefits, though evidence still supports exercise for most.

He also highlighted the Exercise Is Medicine (EIM) initiative, led by the American College of Sports Medicine, which promotes incorporating activity assessment and exercise prescriptions as standard clinical practice in disease prevention and treatment.

For children with CMT, daily opportunities at school and at home offer important chances for physical activity, ideally with support from physical therapists or physical education teachers. Adults with CMT are generally encouraged to aim for about 150 minutes of aerobic activity per week, in sessions of at least 10 minutes.

Bracing and CMT

Mitchell Warner, CPO, of Ortho Rehab and Designs, discussed the complexities of bracing for CMT. Because CMT presents differently in each individual, combining lower limb deformities, muscle weakness, and balance difficulties, orthotics must be tailored carefully.

Treatment typically begins with a gait analysis. Common gait deviations in CMT include hip hiking, abnormal walking base, hyperextended knee, and foot drop. Manual muscle testing helps the orthotist determine the most appropriate brace for each patient.

The most common bracing option for CMT is an ankle-foot orthosis (AFO). AFOs are available off-the-shelf in standard sizes or as custom-made devices fabricated from a mold of the patient’s lower limb. Custom AFOs allow for patient-specific corrections at the joints. Mechanical AFO types include posterior leaf spring, jointed, solid ankle, floor reaction, and energy-storing designs. AFOs can be made from metal, leather, thermoplastics, carbon fiber, or composite materials.

Mr. Warner noted that the primary goals of orthotics are to restore as much function as possible, improve balance, and correct deformities. Improved balance is one of the most essential, and sometimes overlooked, outcomes of successful bracing. Fatigue is another symptom that can be addressed: because people with CMT tend to walk more slowly and at a higher energy cost than those without CMT, energy-storing AFOs can reduce fatigue by producing a more normalized gait pattern.

Podiatry and CMT

Hal Ornstein, DPM, FASPS, FAPWCA, of the Affiliated Foot and Ankle Center, LLP, discussed the role of podiatry in CMT care. Despite being one of the most useful referrals after a CMT diagnosis, podiatry is frequently overlooked. Dr. Ornstein strongly recommended that people with CMT see a podiatrist regularly.

CMT can cause foot deformities, mobility problems, balance difficulties, abnormal gait, and loss of sensation. Podiatrists can assist with the full range of these issues, from surgical planning to routine foot care. Dr. Ornstein emphasized treating each patient as a whole person and developing a combination of interventions tailored to that individual’s needs. He noted that bracing, for example, can improve stability and mobility enough to allow a patient to gain greater benefit from exercise and physical therapy.

Continuing Medical Education

For health care professionals who were unable to attend the meeting, the presentations were made available for CME credit as a webinar following the conference.

HNF will continue to partner with organizations like the AANEM to provide training and resources for the medical community. Learn more about CMT and patient resources on the HNF website.