NDDRF knowledgebase

Charcot-Marie-Tooth disease

Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people.[1][2]

It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940),[3] and the Briton Howard Henry Tooth (1856–1925).[4][5] There is no known cure. Care focuses on maintaining function. CMT was previously classified as a subtype of muscular dystrophy.[1]

[1]Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. (July 2000). "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A". Brain. 123 (7): 1516–1527. doi:10.1093/brain/123.7.1516. PMID 10869062
[2]"Physical Medicine and Rehabilitation for Charcot–Marie–Tooth Disease: Background, Pathophysiology, Epidemiology". Emedicine.medscape.com. Retrieved 2016-11-13.
[3]Charcot JM (1886). "Sur une forme particulière d'atrophie musculaire progressive, souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains" [On a particular form of progressive muscular atrophy, often familial, beginning with the feet and legs and later reaching the hands]. Revue Médicale (in French). 6: 97–138.
[4]Tooth HH (1886). The peroneal type of progressive muscular atrophy (MD thesis). London.
[5]Kumar DR, Aslinia F, Yale SH, Mazza JJ (March 2011). "Jean-Martin Charcot: The Father of Neurology". Clinical Medicine & Research. 9 (1): 46–49. doi:10.3121/cmr.2009.883. ISSN 1539-4182. PMC 3064755. PMID 20739583