Charcot MarieTooth Disease

Charcot MarieTooth disease or CMT, also called as hereditary motor and sensory neuropathy, is a group of inherited disorders that cause damage to peripheral nerves. The disease is named after three physicians Jean Charcot, Pierre Marie, and Howard Henry Tooth, who researched about the condition. The condition is progressive, meaning, the muscles of the arms and legs of CMT patients become weak over a period of time. CMT is a genetic disorder and is caused by many different gene mutations. Since 1991, 90 different genes causing CMT have been identified and the list continues to grow.

Signs and symptoms

CMT patients usually begin to notice symptoms in adolescence or early adulthood. Charcot MarieTooth disease affects both motor and sensory nerves and hence results into both motor symptoms (weakness and muscle wasting) and sensory symptoms such as numbness and tingling in extremities. Very rare symptoms of CMT include breathing problems, hearing loss, speech and swallowing problems.

• Muscle weakness leading to Foot Drop
  
  
• High-stepped gait
  
  
• Frequent tripping and falling
  
  
• Stork-like legs due to muscle atrophy
  
  
• Dropping things
  
  
• Clumsiness
  
  
• Bone deformities
  
  
• Hammertoes and High arches
  
  
• Decreased deep tendon reflexes
  
  
• Sensory loss

Diagnosis and treatment

Examining patient's medical history and family history forms the basis for diagnosing Charcot MarieTooth disease. After noting down the symptoms, doctor may further order nerve conduction studies, electromyography (EMG), nerve biopsy, genetic testing and bone X-rays. Nerve biopsy might be done to check for appearance of CMT. Genetic testing is used to check for mutations that cause CMT.

CMT is not a fatal disease and people with most forms of CMT have normal life expectancy. However there is no cure for Charcot MarieTooth disease. It only needs to be managed depending upon the symptoms of the patient. Physiotherapy plays a major role in improving the condition of CMT patients. Physical therapy involving stretches and light exercises helps in building muscle strength and preventing atrophy. Depending on the symptoms, orthopaedic devices such as splints and braces may be used to maintain the mobility of the limbs. If the patients have severe foot deformity, it can be rectified through surgery to help them walk with ease. It can be supported with use of orthotics - specialized shoes.