| H00745 | |
| H番号 | H00745 |
| 名称 | 高カリウム血性周期性四肢麻痺 |
| 概要 | The periodic paralyses are a group of autosomal-dominant disorders of skeletal muscle sodium, potassium, and calcium channel genes. They are characterized by episodes of muscle weakness associated with variations in serum potassium concentration. Hyperkalemic periodic paralysis (HYPP) is caused by gain-of-function mutations in the alpha-subunit of the skeletal muscle voltage-gated sodium channel, Nav1.4. However, 20% of cases remain genetically undefined, suggesting genetic heterogeneity. HYPP is characterized by attacks of flaccid limb paralysis or, rarely, weakness of the eye and throat muscles. Triggers for these attacks include ingestion of potassium-rich food, rest after strenuous exercise, and cold exposure. |
| 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 | (HYPP) SCN4A [HSA:6329] [KO:K04837] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | The T704M and M1592V mutations in the SCN4A gene account for the majority of cases. |
| リンク | ICD-11: 8C74.11 ICD-10: G72.3 MeSH: D020513 OMIM: 170500 |
| 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 PMID:1659948 (HYPP) 著者 Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF タイトル Identification of a mutation in the gene causing hyperkalemic periodic paralysis. 雑誌 Cell 67:1021-7 (1991) DOI:10.1016/0092-8674(91)90374-8 |