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Is CMT a genetic disease

Updated: 11/5/2022
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Charcot-Marie-Tooth disease (CMT), also known as Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy (PMA) - is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is one of the most common inherited neurological disorders affecting approximately 1 in 2,500 people equating to approximately 23,000 people in the United Kingdom and 125,000 people in the USA.

CMT was previously classified as a subtype of muscular dystrophy.

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Q: Is CMT a genetic disease
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Definitive diagnosis of CMT is made only by genetic testing, usually performed by drawing a small amount of blood.


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