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Definition of «Charcot-Marie-Tooth disease»

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease: A genetic disease of nerves characterized by progressively debilitating muscle weakness, particularly of the limbs. The foremost feature is marked wasting of the distal extremities, particularly the peroneal muscle groups in the calves, resulting in "stork legs." The disease usually weakens the legs before the arms. Pes cavus (deformity of the foot) is often the first sign of the disease. Charcot-Marie-Tooth is one of the more frequent genetic diseases and the most common genetic disease of peripheral nerves. Physical therapy can help to delay somewhat the wasting of limbs. The disease is genetically heterogeneous. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked trait. There are also sporadic cases with no family history of the disease that are due to new dominant mutations. Abbreviated CMT. Also known as Chacot-Marie-Tooth hereditary neuropathy, peroneal muscular atrophy, and hereditary motor and sensory neuropathy.

CMT is divided into a large number of types. Molecular genetic knowledge of CMT is evolving. Molecular testing is available for the diagnosis of the following types of CMT:

  • CMT1A (the gene PMP22, chromosomal locus 17p11.2)
  • CMT1B (the gene MPZ, chromosomal locus 1q22)
  • CMT1D (the gene EGR2, chromosomal locus 10q21.1-q22.1)
  • CMT2B1 (the gene LMNA, chromosomal locus 1q21.2-q21.3)
  • CMT2E (the gene NEFL, chromosomal locus 8p21)
  • CMT4E (the gene EGR2, chromosomal locus 10q21.1-q22.1),
  • CMT4F (the gene PRX, chromosomal locus 19q13.1-q13.2).
  • CMTX (the gene GJB1, chromosomal locus Xq13.1)

Jean Charcot (1825-1893) was a celebrated professor of neurology in Paris (and was Sigmund Freud's mentor). Pierre Marie (1853-1940) was also a famous French neurologist. Howard Henry Tooth (1856-1925) was an English physician.

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