| H00705 | |
| H番号 | H00705 |
| 名称 | 先天性ミオトニー |
| 概要 | Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1. Impaired functioning of the ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) or recessive trait (Becker disease). The predominant features of Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious, and has initial symptoms that occur later in childhood. Two additional forms of myotonia congenita have been described: myotonia levior and fluctuating myotonia congenita. Like Becker and Thomsen disease, both of these conditions are associated with a defect in the ClC-1. Whether these two entities are truly distinct disorders is under debate, and some propose that they are variants of Thomsen disease. |
| 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 | CLCN1 [HSA:1180] [KO:K05010] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C71.2 ICD-10: G71.1 MeSH: D009224 OMIM: 160800 255700 |
| 文献 | PMID:19185184 著者 Lossin C, George AL Jr タイトル Myotonia congenita. 雑誌 Adv Genet 63:25-55 (2008) DOI:10.1016/S0065-2660(08)01002-X 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 |