This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Charcot-Marie-Tooth disease type 1 (CMT1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. Symptoms often begin between age 5 and 25, and the condition is usually slowly progressive. Signs and symptoms include distal muscle weakness and wasting (atrophy); sensory loss; and slow nerve conduction velocity. It is often associated with pes cavus foot deformity (high arch) and bilateral foot drop. Fewer than 5% of people with CMT1 become wheelchair dependent.
CMT1 is inherited in an autosomal dominant manner. There are 6 different subtypes CMT1A CMT1B, CMT1C, CMT1D and CMT1F/ CMT2E, caused by different pathogenic variants (mutations)involving the PMP22 gene (designated CMT1A), or the MPZ, LITAF, EGR2, PMP22 or NEFL genes.
Treatment may involve physical or occupational therapy; the use of special shoes, braces or other orthopedic devices; surgery for severe pes cavus; canes or wheelchairs for mobility; and pain medication as needed.
For more information, visit GARD.