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Category:Charcot Marie Tooth disease
Abbrev CMT, HMSN  +
CurationStatus uncurated  +
Definition A 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)
Id nlx_dys_100316  +
Label Charcot Marie Tooth disease  +
Modification dateThis property is a special property in this wiki. 31 March 2010 02:58:33  +
ModifiedDate 31 March 2010  +
PublicationLink http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm  +
RelatedTo Peripheral nervous system +
SuperCategory Nervous system disease  +
Synonym hereditary motor and sensory neuropathy  +, peroneal muscular atrophy  +
Categories Nervous system disease
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*Note: Neurolex imports many terms and their ids from existing community ontologies, e.g., the Gene Ontology. Neurolex, however, is a dynamic site and any content beyond the identifier should not be presumed to reflect the content or views of the source ontology. Users should consult with the authoritative source for each ontology for current information.