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Neuroscience Information Framework (NIF) Dysfunction Ontlogy
Id | http://uri.neuinfo.org/nif/nifstd/nlx_dys_100316
http://uri.neuinfo.org/nif/nifstd/nlx_dys_100316
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Preferred Name | Charcot Marie Tooth disease |
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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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
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) |
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preferred label | Charcot Marie Tooth disease
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label | Charcot Marie Tooth disease
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prefLabel | Charcot Marie Tooth disease
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synonym |
peroneal muscular atrophy
hereditary motor and sensory neuropathy
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createdDate | March 17, 2010
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abbrev |
CMT
HMSN
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note | 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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prefixIRI | NLX:dys_100316
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