title: A novel syndrome of episodic muscle weakness maps to xp22.3.
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 DXS9985.
authors.affiliation: Department of Neurology, University of Sydney, Sydney, Australia.
authors.forename: M M
authors.initials: MM
authors.lastname: Ryan
authors.forename: P
authors.initials: P
authors.lastname: Taylor
authors.forename: J A
authors.initials: JA
authors.lastname: Donald
authors.forename: R A
authors.initials: RA
authors.lastname: Ouvrier
authors.forename: G
authors.initials: G
authors.lastname: Morgan
authors.forename: G
authors.initials: G
authors.lastname: Danta
authors.forename: M F
authors.initials: MF
authors.lastname: Buckley
authors.forename: K N
authors.initials: KN
authors.lastname: North
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D003434:Crossing Over, Genetic / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018908:Muscle Weakness / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020294:Myasthenic Syndromes, Congenital / Q000503:physiopathology; D010245:Paralyses, Familial Periodic / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*