| H00743 | |
| H number | H00743 |
| Name | Paramyotonia congenita |
| Description | 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. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | SCN4A [HSA:6329] [KO:K04837] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | 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. |
| Other DBs | ICD-11: 8C74.0 ICD-10: G71.1 MeSH: D020967 OMIM: 168300 |
| Reference | PMID:20634695 AUTHORS Raja Rayan DL, Hanna MG TITLE Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. JOURNAL Curr Opin Neurol 23:466-76 (2010) DOI:10.1097/WCO.0b013e32833cc97e PMID:19571750 AUTHORS Platt D, Griggs R TITLE Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. JOURNAL Curr Opin Neurol 22:524-31 (2009) DOI:10.1097/WCO.0b013e32832efa8f PMID:17395134 AUTHORS Heatwole CR, Moxley RT 3rd TITLE The nondystrophic myotonias. JOURNAL Neurotherapeutics 4:238-51 (2007) DOI:10.1016/j.nurt.2007.01.012 |