As part of CMT Awareness Month and its year-round commitment to provide education and training to health care professionals about Charcot-Marie-Tooth (CMT), the Hereditary Neuropathy Foundation sponsored a course on CMT as part of the annual meeting of the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM).
The Hereditary Neuropathy Foundation, though its National CMT Resource Center, is dedicated to offering those living with CMT, their caregivers and the general public essential information and resources about Charcot-Marie-Tooth. We are also committed to providing education and training to those in the medical community. We understand the need for access to health care professionals who know and understand CMT, and we will continue to partner with organizations like the AANEM to provide essential training and resources for the medical community.
The AANEM is a nonprofit membership association dedicated to the advancement of neuromuscular, musculoskeletal, and electrodiagnostic medicine. Comprised of more than 5000 members, the AANEM includes neurologists, physiatrists, and researchers working to improve the quality of medical care provided to patients with muscle and nerve disorders.
The AANEM’s annual meeting, which took place September 14-17, 2011 in San Francisco, provided crucial continuing medical education for its members and others. The National CMT Resource Center provided four experts on CMT to discuss practical, clinical issues for attendees. Highlights included:
Robert Bernstein, MD, Chief of Pediatric Orthopaedics, Long Island Jewish Medical Center discussed “Pediatric Surgery and CMT.” Dr. Bernstein reviewed the early signs of CMT, such as pes valgus (turning of the foot outward), uneven gait, and a lack of coordination and balance. Unfortunately, these somewhat broad symptoms are so common within the general population that the early signs of CMT are often missed. Weakness and deformity increase over time, however, and with further tests an accurate diagnosis can be made.
Dr. Bernstein then discussed possible treatment options for children with CMT, including noninvasive techniques such as stretching, splinting and strengthening of the lower leg. Bracing is another early intervention that can be employed prior to considering surgery.
Surgery for CMT patients can include tendon transfers and osteotomies (cutting of the bone to reshape or realign), or the more invasive procedure, triple arthrodesis, which is a fusion of certain bones in the foot in order to achieve a plantigrade position. Early, less severe tendon transfers or osteotomies may prevent the need for triple arthrodesis in CMT patients.
Finally, Dr. Bernstein discussed correlated conditions of CMT: scoliosis and hip dysplasia. It is important that children and teens with CMT get screened for these conditions to allow for the earliest interventions possible.
Robert Chetlin, PhD, CSCS, HFI, Associate Professor, West Virginia University presented on the topic “Physiotherapy, Exercise and Nutrition for Patients with CMT.” Rather than the commonly heard warnings that patients with CMT should avoid strenuous exercise, Dr. Chetlin discussed the positive results that resistance training has produced for people living with CMT. Although not extensive, the data available show measurable improvements in strength, functional outcomes, and morphologic measures in CMT patients who participated in resistance exercises.
Dr. Chetlin reviewed the relevant literature regarding exercise and CMT. Resistance training protocols of at least 12 weeks in duration provided benefits for adult CMT populations in the areas of strength, power, functional ability, aerobic capacity, body composition, muscle fiber size and muscle protein composition. Data also indicate that CMT patients are at an increased risk for cardiovascular disease.
One study demonstrated that some CMT patients had the capacity to exercise at higher intensities than originally thought without adverse effects. This study also found that patients improved their maximal oxygen consumption and exercise capacity, which have important positive health benefits in many areas.
It is important, however, that each individual with CMT be assessed for exercise capacity with the help of a physical therapist, trainer familiar with CMT, or other health care professional. Some CMT patients may have contraindications to exercise, such as cardiopulmonary disease, poorly controlled diabetes or hypertension. Those with severe orthopedic limitations or muscle weakness may have reduced benefits from their exercise routine, although evidence indicates that exercise is still beneficial.
Dr. Chetlin then discussed the Exercise Is Medicine™ (EIM) model, an initiative led by the American College of Sports Medicine. The goal of EIM is to incorporate activity assessment and exercise prescription, when appropriate, as standard clinical operating procedure in the prevention and treatment of disease. This is an important shift in the common warnings from health care professionals to CMT patients that exercise can be detrimental.
This is particularly important for children with CMT who have daily opportunities to be active in school and at home but may need the support of physical therapists or physical education teachers to engage in such beneficial activities. Adults with CMT should strive to perform about 150 minutes of total aerobic exercise and activity throughout the week, in periods of at least 10 minutes duration.
Mitchell Warner, CPO of Ortho Rehab and Designs talked with the audience about “Bracing and CMT.” For orthotists, CMT presents a complicated combination of lower limb deformities, muscle weakness and balance loss. CMT presents so uniquely in each individual that treatment is quite challenging, including bracing.
Treatment most often begins with an analysis of a patient’s gait. Gait deviations for people with CMT can include “hip hiking,” abnormal walking base, hyperextended knee and foot drop among others. In addition to gait analysis, manual muscle testing helps inform an orthotist what type of brace would best serve an individual CMT patient.
One of the most common types of bracing used for patients with CMT is an ankle-foot orthosis (AFO). AFOs can be obtained “off the shelf,” which are standard sizes, or they can be custom-made, fabricated from a mold of the patient’s lower limb. Custom-made AFOs provide an exact fit, with patient-specific corrections to the joints. Types of mechanical AFOs include posterior leaf spring, jointed, solid ankle, floor reaction and energy-storing (e.g., Helios braces, which are a type of custom-made brace developed by Mitch Warner in his practice). Finally, AFOs can be made of a variety of materials, including metal, leather, thermoplastics, carbon fiber, and composites.
Orthotics are meant to give back as much function as possible to the patient. They should improve balance and correct deformities. When a brace successfully corrects and stabilizes, positive functional outcomes occur. Improved balance is the most essential, and sometimes overlooked, outcome for bracing.
Another symptom of CMT that can be addressed with bracing is fatigue. Many studies have shown that people with CMT walk slower and at a higher cost of energy than people who do not have CMT. Some AFOs, such as the energy-storing Helios, can reduce fatigue by creating a more normalized gait.
Hal Ornstein, DPM, FASPS, FAPWCA of the Affiliated Foot and Ankle Center, LLP, discussed “Podiatry and Patients with CMT.” He explained that it is strongly recommended for patients with CMT to visit a podiatrist regularly, although it is an often overlooked referral after a diagnosis of CMT.
Podiatrists can help with a wide range of issues for people with CMT. Dr. Ornstein emphasized treating the whole patient, from discussing the need for surgery to cutting a patient’s toenails every six weeks. CMT can cause foot deformities, mobility problems, balance difficulties, abnormal gait, and loss of sensation. A podiatrist can assist with all of these issues.
Dr. Ornstein discussed the range of treatment options for CMT patients and how a combination of interventions should be developed to meet an individual patient’s needs. For example, bracing can help stability, balance and mobility which can then enable a patient to gain improved benefits from exercise and physical therapy.
If you were unable to attend the meeting, presentations will be available for CME credit as a webinar following the conference.
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