Literature DB >> 22751421

An unexpected cause of proximal myopathy.

Sarah Ann Townsend1, Matt Smith, Wyn Harris, Richard Chudleigh.   

Abstract

A 25-year-old man presented with a short history of profound proximal muscle weakness such that he was unable to stand. Laboratory investigations demonstrated hypokalaemia and mildly elevated serum creatine kinase. He reported a history of 8-10 episodes of less severe weakness in the preceding 8 years and his mother reported similar symptoms. The combination of weakness and hypokalaemia with a probable family history suggested the diagnosis of hypokalaemic periodic paralysis. He was treated with intravenous and oral potassium supplementation, and regained full power within 24 h.

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Year:  2012        PMID: 22751421      PMCID: PMC4542960          DOI: 10.1136/bcr-02-2012-5809

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  8 in total

Review 1.  Periodic paralysis and voltage-gated ion channels.

Authors:  B Fontaine; P Lapie; E Plassart; N Tabti; S Nicole; J Reboul; C S Rime-Davoine
Journal:  Kidney Int       Date:  1996-01       Impact factor: 10.612

2.  Hypokalaemia and paralysis.

Authors:  S H Lin; Y F Lin; M L Halperin
Journal:  QJM       Date:  2001-03

Review 3.  Thyrotoxic periodic paralysis in the United States. Report of 7 cases and review of the literature.

Authors:  K P Ober
Journal:  Medicine (Baltimore)       Date:  1992-05       Impact factor: 1.889

Review 4.  Periodic paralysis.

Authors:  Bertrand Fontaine
Journal:  Adv Genet       Date:  2008       Impact factor: 1.944

5.  Laboratory tests to determine the cause of hypokalemia and paralysis.

Authors:  Shih-Hua Lin; Yuh-Feng Lin; Dung-Tsa Chen; Pauling Chu; Chin-Wang Hsu; Mitchell L Halperin
Journal:  Arch Intern Med       Date:  2004-07-26

6.  Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Authors:  L J Ptácek; R Tawil; R C Griggs; A G Engel; R B Layzer; H Kwieciński; P G McManis; L Santiago; M Moore; G Fouad
Journal:  Cell       Date:  1994-06-17       Impact factor: 41.582

7.  An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.

Authors:  Yang Hee Park; June Bum Kim
Journal:  Korean J Pediatr       Date:  2010-10-31

8.  Correlating phenotype and genotype in the periodic paralyses.

Authors:  T M Miller; M R Dias da Silva; H A Miller; H Kwiecinski; J R Mendell; R Tawil; P McManis; R C Griggs; C Angelini; S Servidei; J Petajan; M C Dalakas; L P W Ranum; Y H Fu; L J Ptácek
Journal:  Neurology       Date:  2004-11-09       Impact factor: 9.910

  8 in total

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