title: Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia.
abstract: The clinical, biochemical and histochemical features of 14 patients (nine females and five males) with severe childhood autosomal recessive muscular dystrophy (SCARMD) seen at a tertiary hospital in Riyadh from 1982 to 1993 are described. Onset was at 3 to 9 (median 3) years and four of five children aged > 12 years lost ambulation. Five of the eight pairs of parents were closely consanguineous. The mean creatine kinase was 20 times the upper normal limit. Histochemistry of muscle showed dystrophic features in all cases, and dystrophin was positive in all cases examined (N = 6). Three patients (two girls and a boy) were deficient in adhalin, the 50-kDa dystorphin-associated glycoprotein. A boy aged 13 years had rapidly progressing disease. Another boy of the same age (from a family characterized by early onset and slower progression) had normal dystrophin and adhalin. The clinical features conformed with previous observations from Sudan, North Africa and Qatar in the Arabian Peninsula. The disease is common in Saudi Arabia and seems to be more prevalent than Duchenne muscular dystrophy.
authors.affiliation: Department of Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: M A
authors.initials: MA
authors.lastname: Salih
authors.forename: A H
authors.initials: AH
authors.lastname: Mahdi
authors.forename: A C
authors.initials: AC
authors.lastname: al-Rikabi
authors.forename: M
authors.initials: M
authors.lastname: al-Bunyan
authors.forename: S L
authors.initials: SL
authors.lastname: Roberds
authors.forename: R D
authors.initials: RD
authors.lastname: Anderson
authors.forename: K P
authors.initials: KP
authors.lastname: Campbell
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000032:analysis; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012529:Saudi Arabia
chemical_list: D016189:Dystrophin; D003402:Creatine Kinase