A novel syndrome of episodic muscle weakness maps to Xp22.3

Monique M. Ryan, Peter Taylor, Jennifer A. Donald, Robert A. Ouvrier, Graeme Morgan, Gytis Danta, Michael F. Buckley, Kathryn N. North*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

Abstract

We describe a family with a novel disorder characterized by episodic muscle weakness and X-linked inheritance. Eight males in three generations demonstrate the characteristic features of the disorder. Episodes of severe muscle weakness are typically precipitated by febrile illness and affect the facial and extraocular musculature, as well as the trunk and limbs, and resolve spontaneously over a period of weeks to months. Younger members of the family are normal between episodes but during relapses show generalized weakness, ptosis, and fluctuations in strength. In some cases, fatigability can be demonstrated. The proband has late-onset chronic weakness and fatigability. The clinical phenotype has features suggestive both of the congenital myasthenic syndromes and of ion-channel disorders such as the periodic paralyses. We have localized the responsible gene to chromosome Xp22.3, with a maximum two-point LOD score of 4.52 at a recombination fraction of .0, between OACA2 and DXS998S.

Original languageEnglish
Pages (from-to)1104-1113
Number of pages10
JournalAmerican Journal of Human Genetics
Volume65
Issue number4
DOIs
Publication statusPublished - 1999

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