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Charcot Marie Tooth disease

Name: Charcot Marie Tooth disease
Description: A common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States, comprising a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. (adapted from NINDS disease pages)
Synonym(s): hereditary motor and sensory neuropathy, peroneal muscular atrophy
Abbreviation: CMT, HMSN
Super-category: Nervous system disease
Id: nlx_dys_100316
Publication link: http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm
Related to: Peripheral nervous system
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Facts about Charcot Marie Tooth diseaseRDF feed
AbbrevCMT, HMSN  +
CurationStatusuncurated  +
DefinitionA common inherited neurological disorders, A common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States, comprising a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. (adapted from NINDS disease pages) skills. (adapted from NINDS disease pages)
Idnlx_dys_100316  +
LabelCharcot Marie Tooth disease  +
ModifiedDate31 March 2010  +
PublicationLinkhttp://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm  +
RelatedToPeripheral nervous system  +
SuperCategoryNervous system disease  +
Synonymhereditary motor and sensory neuropathy  +, and peroneal muscular atrophy  +