Clinical approach to children with suspected neurodegenerative disorders

Abstract

Inherited neurodegenerative disorders are common in the Kingdom of Saudi Arabia as a result of the high rate of consanguinity. This is a complex field with a multitude of different disorders characterized by a variety of clinical manifestations, complex molecular biology, and a long list of potential investigations. As a result, this is often a confusing and difficult area for non-specialists, resulting in delays in reaching the diagnosis. Reaching a specific diagnosis is of clear importance for providing appropriate therapy, prognosis, and genetic counseling. This paper is intended to provide a simplified practical approach to guide residents and generalists in the initial diagnostic evaluation of children with suspected neurodegenerative disorders. Emphasis is placed on useful clinical signs, diagnostic tips, potential pitfalls, and recent advances in therapy.