Inherited Neuropathies Consortium

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Our CMT Research

Charcot-Marie-Tooth (CMT) disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. CMT is the most common inherited neurological disorder, affecting an estimated 150,000 people in the United States.

The earliest symptoms, which can begin in early adolescence, usually involve muscle weakness in the feet causing foot abnormalities such as high arches (pes cavus) or curled toes (hammer toes). It may become difficult for individuals with CMT to hold up the foot or to walk on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and can increase the chance of ankle injuries and tripping. As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.

Researchers at the John P. Hussman Institute for Human Genomics (HIHG) have made significant discoveries in CMT, beginning with the identification of chromosomal locations that harbor CMT genes. Currently, they are involved in several projects aimed at a deeper understanding of the pathology in CMT that could open opportunities for future treatment options.