CLINICAL AND MOLECULAR PATHOLOGICAL FEATURES OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN SAUDI-ARABIA

The clinical, biochemical and histochemical features of 14 patients (n ine 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 eigh t pairs of parents were closely consanguineous. The mean creatine kina se was 20 times the upper normal limit. Histochemistry of muscle showe d dystrophic features in all cases, and dystrophin was positive in all cases examined (N=6). Three patients (two girls and a buy) were defic ient in adhalin, the 50-kDa dystorphin-associated glycoprotein. A boy aged 13 years had rapidly processing 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 w ith previous observations from Sudan, North Africa and Qatar in the Ar abian Peninsula. The disease is common in Saudi Arabia and seems to be more prevalent than Duchenne muscular dystrophy.