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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.
Source: GARD Last updated on 05-01-20
A diagnosis of Charcot-Marie-Tooth disease type 1 (CMT1) can be made based on signs and symptoms and molecular genetic testing. People with symptoms of CMT1 should be evaluated by a neurologist. Evaluation may include a thorough neurological exam, special nerve studies, and consideration of medical and family histories. If CMT is suspected, tests that may be ordered include:
A clinical diagnosis may be considered in individuals with:
Genetic testing results can usually confirm a diagnosis. Different genetic testing strategies have been proposed in people with symptoms of CMT1, as several genes are associated with the condition. One testing strategy involves testing a single gene at a time, starting with the gene most commonly responsible, and ending with gene least commonly responsible. An alternative genetic testing strategy is using a multi-gene panel that includes all genes of interest. Molecular genetic testing is needed to distinguish the subtype of CMT1 (type A through F), which is based on the responsible gene and mutation.
The Genetic Testing Registry (GTR) provides information about the genetic tests for CMT1. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated on 05-01-20
The long-term outlook (prognosis) for people with Charcot-Marie-Tooth disease type 1 (CMT1) varies because the severity of the condition varies. Some people with CMT1 have extremely mild disease that goes unrecognized, while others have considerable weakness and disability.
In general, the condition is slowly progressive (gradual). Affected individuals often experience long periods without obvious deterioration. Most people with CMT1 remain ambulatory throughout life with fewer than 5% becoming wheelchair dependent. Life expectancy for affected individuals is normal.
Last updated on 05-01-20
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