Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth (CMT) disease is an inherited neurological disorder that can result in weakened muscles, reduced coordination, muscle contractions, and loss of sensation. Also referred to as a hereditary motor and sensor neuropathy, this condition can damage the peripheral nerves in the legs and arms.

What are the Signs of Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease is most commonly characterized by weakness in the lower leg and foot muscles. Visible foot deformities including unusually high arches, flat feet, or hammertoes may also be present, as well as noticeably small calf muscles due to reduced muscle bulk. As the disease progresses, its effects may spread to the arms and hands.

People with Charcot-Marie-Tooth disease typically present noticeable symptoms in adolescence or early adulthood. Less commonly, symptoms may develop in a person’s thirties or forties.

Living with Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is not curable. However, this disease progresses slowly, rarely impacts life expectancy, and can often be effectively managed with conservative treatment approaches. Many physicians suggest a combination of:

  • Self-care measures – Healthy habits such as stretching regularly, engaging in low-impact exercise, wearing sensible footwear, and quitting detrimental habits like smoking
  • Physical therapy – Strategic stretching routines, gentle exercises, and other conservative techniques that are designed to elongate and strengthen key muscles
  • Orthopedic devices – Leg or ankle braces, or a combination of both, that help preserve mobility and provide increased stability in the lower body
  • Occupational therapy – Exercises and devices that make it simpler to perform everyday actions, such as buttoning a shirt and gripping a door handle

Surgery may sometimes be recommended to help correct a patient’s foot deformity if it substantially impacts his or her ability to walk.  Older treatment philosophy only recommended surgery as the last measure when there are severe contractures.  Newer thought is that early surgical rebalancing of the foot and ankle can lead to better long-term outcomes.

Orthopaedic Specialists in the Greater Pittsburgh Region offers specialized diagnostics and ongoing care to patients with Charcot-Marie-Tooth disease. Standing at the forefront of orthopedic research, our board-certified and award-winning physicians can provide you with the latest developments in treatment for this condition. Dr. Conti, for example, is regarded as a leader and one of ten physicians in the country asked to participate in a panel to determine best practice for Charcot-Marie-Tooth disease surgical treatment. If you’d like to consult with a physician about your Charcot-Marie-Tooth disease treatment options, we encourage you to contact one of our conveniently located centers today.

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