loading...| 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) |
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| 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 |