Childhood neuromuscular disorders: a decade's experience in Saudi Arabia

Abstract

The study describes the pattern of childhood neuromuscular disorders seen in a decade (1982-1992) at King Khalid University Hospital, Riyadh, Saudi Arabia. Similar data are scanty outside Europe and North America, and lacking in Saudi Arabia. Eighty-four children (< or = 16 years) were assigned to an entity of neuromuscular disease following review of the clinical, biochemical and neurophysiological data, and after re-examination of the histological and histochemical features of the muscle biopsies. Of the 84 ascertained cases, 40 (48%) had different forms of muscular dystrophy (MD), 26 (31%) had one of the various types of spinal muscular atrophy (SMA) and two (2.4%) hereditary motor and sensory neuropathy type I. The rest were miscellaneous cases including one (1.2%) with dermatomyositis. Of the dystrophies, severe childhood autosomal recessive muscular dystrophy (SCARMD) was more prevalent (30%) than Duchenne type (25%), conforming with observations from North African countries known to have a high incidence of consanguineous marriages. Family history of other cases of SCARMD included three males and three females, one of whom died at 15 years, and consanguinity was evident in 63%. Congenital MD, inherited in an autosomal recessive pattern, was also common (30%). A history of consanguinity was present in 55%. Of the 26 cases of SMA, type I (Werdnig-Hoffman disease) was the most prevalent (69%). Consanguinity was ascertained in 65% of SMA families and histories revealed another 14 affected siblings. Autosomal recessive forms seem to constitute the bulk of neuromuscular disorders in Saudi Arabia.

Genetic Diversity among the Arabs

“…Common neuromuscular disorders encountered in the Arab population include spinal muscular atrophy with a prevalence of 1: 1,000 live births in some areas; severe childhood autosomal recessive muscular dystrophy with a prevalence similar or slightly less than that of the Duchenne type particularly in Sudan, Tunisia, and Kuwait; congenital muscular dystrophy; peripheral neuropathies; cerebellar ataxia, and hereditary spastic paraplegia [1,13] .…”

A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia

“…reported in any place in the world. An incidence of 193 per 100,000 live births for type I SMA was observed, which is almost 40-fold higher than that found in Northern America [14,15]. In that series, parents were consanguineous in 64% of the cases, an incidence comparable to that found in the general Saudi popu-lation.…”

A Pediatric Neurologist's Clinical Experiences in Saudi Arabia

“…11,12 Ready availability and pathologic interpretation of muscle biopsies in children helped identify both common and uncommon neuromuscular disorders. 11,12 Ready availability and pathologic interpretation of muscle biopsies in children helped identify both common and uncommon neuromuscular disorders.…”