Charcot-Marie-Tooth / Hereditary Neuropathy Center

Designated by the Hereditary Neuropathy Foundation as a Center of Excellence

The Charcot-Marie-Tooth/Hereditary Neuropathy Center at Cedars-Sinai provides state-of-the-art diagnosis and advanced treatment of Charcot-Marie-Tooth (CMT) disease.

CMT is an inherited disorder affecting approximately one in 2,500 people and is characterized by weakness in the lower extremities, high arches, curled hammer toes, foot drop, an unstable gait, difficulty with balance, decreased feeling in the feet and sometimes pain. As the disease progresses there can be weakness in the hands and decreased sensitivity to heat and cold. CMT is not life threatening, but the quality of life can be severely threatened.

The Cedars-Sinai Charcot-Marie-Tooth/Hereditary Neuropathy Center, directed by Glenn Pfeffer, MD, brings together a multidisciplinary team of medical specialists, including neurologists, geneticists, pediatric and adult orthopaedic surgeons, nurses, orthotists and occupational/physical therapists. Our team discusses each patient's condition to provide the most thorough, current and comprehensive treatment available. The Hereditary Neuropathy Foundation and patients with CMT helped design the center to ensure that we provide the highest level of patient-centered care. The center uses the most advanced bracing techniques and promotes ongoing research. The surgical experience of our surgeons is among the highest in the nation for specialized motion sparing procedures for CMT.

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Program Leadership

Glenn B. Pfeffer, MD Director, Foot and Ankle Center

About Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease affects one in 2,500 people and is one of the most common inherited neurological disorders. The disease was named in 1886 after the three physicians who first described it, Jean Marie Charcot and Pierre Marie in France and Howard Tooth in England.

CMT is an inherited genetic disease. Defective genes affect the proteins involved in the structure and function of the peripheral nerves. This nerve damage, or neuropathy, causes muscle weakness and possible loss of sensation. The extremities are most commonly affected, especially the feet and legs.

There are many types of CMT. CMT1 is the most common type and results from biochemical abnormalities in the myelin sheath that covers a peripheral nerve. The diagnosis of CMT is made by neurological examination, nerve conduction studies, electromyography and genetic testing. Occasionally a nerve biopsy may be required.

Depending upon the severity of the symptoms, treatment for CMT includes occupational and physical therapy, specialized braces which stabilize the lower extremity but allow motion, and surgery directed at correcting foot deformity without fusing joints. There is no known cure for CMT.