- Disease, Charcot-Marie-Tooth
- A neuromuscular disease that is the most common inherited disorder of peripheral nerves, characterized by progressively debilitating weakness. The disease is also called peroneal muscular atrophy. The foremost feature of Charcot-Marie-Tooth disease (CMT) is marked wasting of the more distal extremities, particularly the peroneal muscle groups in the calves, resulting in "stork legs." CMT usually involves the legs before the arms. Pes cavus (deformity of the foot) is often the first sign of the disease. CMT affects about 1 in every 2-3,000 people and so is one of the most frequent genetic diseases. It is genetically heterogeneous (diverse); it can be inherited as an autosomal dominant, autosomal recessive, or X-linked trait; and there are also sporadic cases (with no family history of CMT) due to new dominant mutations. The disease is divided into two main types on the basis of the electrophysiology. Type 1 (CMT1) shows decreased motor nerve conduction velocities and primarily affects myelin (the substance that covers and protects nerves). Type 2 (CMT2) has normal (or only slightly reduced) motor nerve conduction velocities with decreased amplitudes and largely affects the axon (the nerve fiber that carries outgoing messages). CMT1 involves genes that encode proteins important to the formation, structure, and integrity of myelin. The first CMT2 gene to be identified, the gene NF-L, encodes neurofilament light protein, one of three major neurofilament protein constituents. (Neurofilaments are important for the structure and function of axons and may be necessary for axonal transport, regeneration, and longevity.) Physical therapy can help to delay somewhat the wasting of limbs seen in CMT. Jean Charcot (1825-1893) was a celebrated professor of neurology in Paris (and was Sigmund Freud's mentor). Pierre Marie (1853-1940) was similarly a famous French neurologist.
Medical dictionary. 2011.
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Charcot–Marie–Tooth disease — Charcot Marie Tooth disease Classification and external resources The foot of a person with Charcot Marie Tooth. The lack of muscle, a high arch, and claw toes are signs of the genetic disease. ICD 10 … Wikipedia
Charcot-Marie-Tooth disease — Charcot Marie Tooth disease. См. наследственная невральная амиотрофия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
Charcot-Marie-Tooth disease — Infobox Disease Name = Charcot Marie Tooth disease Caption = The foot of a person with Charcot Marie Tooth. The lack of muscle, a high arch, and hammer toes are signs of the genetic disease. DiseasesDB = 5815 DiseasesDB mult= DiseasesDB2|2343… … Wikipedia
Charcot-Marie-Tooth disease — A neuromuscular disease, the most common inherited disorder of peripheral nerves, characterized by progressively debilitating weakness. The disease is also called peroneal muscular atrophy and hereditary motor and sensory neuropathy. The foremost … Medical dictionary
Charcot-Marie-Tooth disease — ▪ pathology also called peroneal muscular atrophy a group of inherited nerve diseases (nervous system disease) characterized by slowly progressive weakness and wasting of the muscles of the lower parts of the extremities. In Charcot Marie … Universalium
Charcot-Marie-Tooth disease (atrophy) — Char·cot Ma·rie Tooth disease (atrophy) (shahr koґ mah reґ t thґ) [J.M. Charcot; P. Marie; Howard Henry Tooth, English physician, 1856â€“1925] see under disease … Medical dictionary
Charcot-Marie-Tooth disease — peroneal muscular atrophy a group of inherited diseases of the peripheral nerves, also known as hereditary sensorimotor neuropathy, causing a gradually progressive weakness and wasting of the muscles of the legs and the lower part of the thighs.… … The new mediacal dictionary
Charcot-Marie-Tooth disease — Hereditary degenerative motor and sensory neuropathy affecting peripheral nerves and inherited as an autosomal dominant … Dictionary of molecular biology
Charcot-Marie-Tooth disease — muscular atrophy … Eponyms, nicknames, and geographical games
Charcot-Marie-Tooth disease — noun a form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span;… … Useful english dictionary