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KMID : 1035220130050010023
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Korean Journal of Neuromuscular Disorders
2013 Volume.5 No. 1 p.23 ~ p.27
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Hereditary Peripheral Neuropathy
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Kim Sang-Beom
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Abstract
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Hereditary peripheral neuropathy, collectively called Charcot-Marie-Tooth disease (CMT), is the most common inherited neuromuscular disorders, with a prevalence of 1 in 2500 people. CMT patients typically present with chronic muscle weakness and atrophy in limbs, sensory loss in the distal extremities, and foot deformities. Phenotypic similarities between patients often need gene test for confirmative diagnosis. In this short paper, the author reviews the clinical and pathological features of CMT, and electrodiagnostic and genetic tools used to assist in diagnosis and symptomatic management of the diseases.
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KEYWORD
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Charcot-Marie-Tooth disease, Hereditary neuropathy
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