title: Paramyotonia congenita in 22 members of an Arab (Omani) kindred.
abstract: Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.
authors.affiliation: Department of Child Health (Neurology), Sultan Qaboos University Hospital, College of Medicine and Health Sciences, Muscat, Oman. roshankoul@hotmail.com
authors.forename: Roshan
authors.initials: R
authors.lastname: Koul
authors.forename: Amna
authors.initials: A
authors.lastname: Alfutaisi
authors.forename: Manjusha
authors.initials: M
authors.lastname: Hira
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D018912:Arabs; D003080:Cold Temperature; D003937:Diagnosis, Differential; D004576:Electromyography; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009222:Myotonia / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D020967:Myotonic Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D009850:Oman; D010375:Pedigree; D055815:Young Adult