Preferred Name

Charcot Marie Tooth disease

Synonyms

peroneal muscular atrophy

hereditary motor and sensory neuropathy

Definitions

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)

ID

http://uri.neuinfo.org/nif/nifstd/nlx_dys_100316

abbrev

CMT

HMSN

createdDate

March 17, 2010

definingCitationURI

http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm

definition

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)

label

Charcot Marie Tooth disease

prefixIRI

NLX:dys_100316

prefLabel

Charcot Marie Tooth disease

synonym

peroneal muscular atrophy

hereditary motor and sensory neuropathy

subClassOf

http://purl.obolibrary.org/obo/DOID_863

http://uri.neuinfo.org/nif/nifstd/birnlex_12796

http://purl.obolibrary.org/obo/DOID_440

http://uri.neuinfo.org/nif/nifstd/birnlex_12578

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