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Charcot-Marie-Tooth Disease

Named after the three physicians who first identified the disease, Charcot-Marie-Tooth (CMT) is an inherited neurological disorder that affects the peripheral nerves, which lie outside the brain and spinal cord. Peripheral nerves send signals to the muscles in your limbs and send sensations – such as pain and touch - back to your brain.

Symptoms

Symptoms of CMT – also called hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy – typically arise in adolescence or early adulthood. They may include:

  • Foot dropping
  • Hammer toes
  • High-stepping gait and high arches
  • Tripping and falling
  • Weakness in your foot and lower leg muscles
  • Weakness and a loss of the fine motor skills of your arms and hands

 

Diagnosis

When you visit the AHN Neuroscience Institute, a physician will perform a complete neurological evaluation and discuss your symptoms, health history and family medical history. To determine a diagnosis, your physician may order any of these tests:

Electromyogram (EMG) measures electrical activity of muscles at rest and during contraction to determine whether your symptoms are nerve-related or muscle-related. An EMG is often done along with a nerve conduction velocity (NCV), which measures how well and how fast the nerves can send electrical signals.

Blood tests can indicate common gene defects responsible for CMT.

Nerve biopsy involves removing a tiny piece of peripheral nerve to be examined under a microscope.  

Treatments

AHN offers many therapies to help you cope with your symptoms, reduce pain and increase muscle strength, including:

Physical therapy is used to stretch and strengthen your muscles and increase your stamina.

Orthopaedic devices are often required to maintain everyday mobility and prevent injury. These include ankle braces, high-top shoes and hand splints.