title: Genetically determined neurodegenerative disorders: experiences in Saudi Arabia.
abstract: There is, to date, hardly any literature on genetic neurodegenerative disorders from developing countries. This paper reports a study of 98 Saudi children with genetic neurodegenerative disorders. The four most encountered diagnoses were: spinal muscular atrophy, storage (lysosomal) disorders, neurocutaneous syndromes and aminoacidopathies. Consanguinity has been noted in about 50% of the families. In view of the major advances made in recent years in the recognition and treatment of these disorders, the role of the physician is discussed.
authors.affiliation: Department of Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: A H
authors.initials: AH
authors.lastname: Mahdi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D012189:Retrospective Studies; D012529:Saudi Arabia