Genetically determined neurodegenerative disorders: experiences in Saudi Arabia

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.