Charcot-Marie-Tooth Hereditary Neuropathy
Designated by the Hereditary Neuropathy Foundation as a Center of Excellence
The Charcot-Marie-Tooth/Hereditary Neuropathy Center at Cedars-Sinai is a joint effort by the departments of neurology, pediatrics, orthopaedics and medical genetics to provide 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. It is characterized by weakness in the lower extremities, high arches, curled hammer toes, foot drop, an unstable gait, difficulties 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 brings together a multidisciplinary team of medical specialists, including pediatric and adult neurologists, geneticists, 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 multidepartmental, multidisciplinary team approach ensures 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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About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth (CMT) 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.
The Charcot-Marie-Tooth/Hereditary Neuropathy Center is committed to performing cutting edge research to bring new therapies for CMT patients. Research programs include basic science, genetic discovery, and translational "bench to bedside" efforts. Ongoing research projects include discovery of new genetic causes of CMT, use of adult stem cells to model and treat CMT, and participation in national clinical trials investigating novel drug therapies.
Dr. Baloh's research laboratory has discovered the genetic cause of several novel types of hereditary neuropathy, and developed cellular and animal models of axonal Charcot-Marie-Tooth disease (CMT type 2). They also have an active program aimed at developing adult stem cells derived from CMT patients, and are investigating the role of stem cell transplantation in demyelinating CMT (CMT1).