Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia

M A Salih; A H Mahdi; A C al-Rikabi; M al-Bunyan; S L Roberds; R D Anderson; K P Campbell

doi:10.1111/j.1469-8749.1996.tb15089.x

Back

Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia

Journal article

Peer reviewed

Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia

M A Salih, A H Mahdi, A C al-Rikabi, M al-Bunyan, S L Roberds, R D Anderson and K P Campbell

Developmental medicine and child neurology, Vol.38(3), pp.262-270

03/1996

DOI: 10.1111/j.1469-8749.1996.tb15089.x

PMID: 8631523

View Online

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.

Saudi Arabia

Electromyography

Creatine Kinase - blood

Humans

Child, Preschool

Male

Chromosome Disorders

Muscular Dystrophies - genetics

Dystrophin - analysis

Biopsy

Chromosome Aberrations - genetics

Pedigree

Muscle, Skeletal - chemistry

Adolescent

Age of Onset

Female

Consanguinity

Muscular Dystrophies - diagnosis

Child

Details

Title: Subtitle: Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia
Creators: M A Salih - Department of Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
A H Mahdi
A C al-Rikabi
M al-Bunyan
S L Roberds
R D Anderson
K P Campbell
Resource Type: Journal article
Publication Details: Developmental medicine and child neurology, Vol.38(3), pp.262-270
Publisher: England
DOI: 10.1111/j.1469-8749.1996.tb15089.x
PMID: 8631523
ISSN: 0012-1622
eISSN: 1469-8749
Language: English
Date published: 03/1996
Academic Unit: Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
Record Identifier: 9984068274902771

Metrics

21 Record Views

15 Times Cited - Web of Science