H00745 | |
H number | H00745 |
Name | Hyperkalemic periodic paralysis |
Description | 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. |
Category | Nervous system disease; Musculoskeletal disease |
Network | - |
Gene | (HYPP) SCN4A [HSA:6329] [KO:K04837] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Dichlorphenamide [DR:D00518] |
Comment | The T704M and M1592V mutations in the SCN4A gene account for the majority of cases. |
Other DBs | ICD-11: 8C74.11 ICD-10: G72.3 MeSH: D020513 OMIM: 170500 |
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 PMID:1659948 (HYPP) AUTHORS Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF TITLE Identification of a mutation in the gene causing hyperkalemic periodic paralysis. JOURNAL Cell 67:1021-7 (1991) DOI:10.1016/0092-8674(91)90374-8 |