| H00743 | |
| H番号 | H00743 |
| 名称 | 先天性パラミオトニー |
| 概要 | Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in exposed areas (mainly the face, neck, and hands) that lasts for minutes to hours. The disease may also progress later in life, with stiffness giving way to flaccid paralysis and weakness in exposed or exercised muscles. It is caused by mutations in the sodium channel gene SCN4A. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | SCN4A [HSA:6329] [KO:K04837] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | PMC mutations are concentrated around exons 22 and 24 of SCN4A, the commonest mutations being the Thr1313Met mutation and a variety of substitutions at position 1448. |
| リンク | ICD-11: 8C74.0 ICD-10: G71.1 MeSH: D020967 OMIM: 168300 |
| 文献 | PMID:20634695 著者 Raja Rayan DL, Hanna MG タイトル Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. 雑誌 Curr Opin Neurol 23:466-76 (2010) DOI:10.1097/WCO.0b013e32833cc97e PMID:19571750 著者 Platt D, Griggs R タイトル Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. 雑誌 Curr Opin Neurol 22:524-31 (2009) DOI:10.1097/WCO.0b013e32832efa8f PMID:17395134 著者 Heatwole CR, Moxley RT 3rd タイトル The nondystrophic myotonias. 雑誌 Neurotherapeutics 4:238-51 (2007) DOI:10.1016/j.nurt.2007.01.012 |