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Ultrasound Diagnosis of Charcot-Marie-Tooth Disease Yu-ichi Noto 1 1Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine Keyword: 超音波検査 , 末梢神経 , シャルコー・マリー・トゥース病 , 遺伝性圧脆弱性ニューロパチー , 診断 , ultrasound , nerve , diagnosis , Charcot-Marie-Tooth disease , hereditary neuropathy with liability to pressure palsy pp.237-246
Published Date 2014/3/1
DOI https://doi.org/10.11477/mf.1416101737
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Abstract

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of diseases with over 45 different causative gene mutations identified. Nerve conduction studies are important for the classification and diagnosis of CMT, whereas ultrasound (US) is increasingly used to assess the peripheral nerves of patients with CMT, as a complement to neurophysiological studies. Recent ultrasound assessment reports of peripheral nerves in CMT are summarized here. An ultrasound finding of CMT1A, which is the most common demyelinating subtype of CMT, is characterized by uniform enlargement of peripheral nerves and nerve roots. Patients with CMT1B (MPZ mutation) also have larger nerves than normal subjects do. Peripheral nerves of patients with CMT2, which is an axonal type of CMT, are slightly larger than those of normal subjects. Focal enlargement of nerves at entrapment sites is a characteristic US finding of hereditary neuropathy with liability to pressure palsy. US findings of CMT are thus subtype-specific. Therefore, the assessment of nerve US may become a useful supporting tool for the diagnosis of CMT subtypes.


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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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