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The hands may show atrophy and often the patients will have weakness and inability to hold objects very well. Symptoms with the hands usually start to occur later in life and there is less information on treatment for hand conditions than for the legs.
This condition can often be evident by the deformities of the feet and the presence of family history. However, a neurologist should be consulted and genetic (chromosome analysis) and nerve testing (EMG) can be performed to confirm which type of CMT the patient has. Most types look fairly similar clinically so genetic testing can be helpful in determining the exact type. Up to 90% of patients can be diagnosed by genetic testing. EMG can be helpful if genetic testing is not conclusive. In a few patients, a nerve biopsy may be necessary to complete the diagnosis.
There is no cure for CMT. In the future, genetic treatment may become available. Early bracing can be helpful to keep the foot from slapping and turning inward during gait, and hopefully slow some of the progression of the deformities. Later, after the weakness gets worse or deformity starts in, surgery can be helpful. Tendon transfers and bone surgery to reposition the foot can be helpful. If diagnosed early, some patients will do well with just tendon surgery to balance the foot, but once bone deformity has set in, more extensive bone surgery is often required.
It is well known that CMT adversely affects the quality of life of the patients that have the condition. Physical, emotional and social aspects of patient’s lives are all affected. Accurate diagnosis, close follow up and different treatments can be helpful in the short term. Surgery is beneficial, but the deformity may return due to the progression of the disease and longer term follow-up is necessary.
- Orthoinfo - Charcot Marie Tooth Disease