Overview of genetics and role of the pediatric physical therapist in the diagnostic process

The purpose of this report is to enhance awareness about the pathogenesis of various genetic diseases and syndromes that physical therapists frequently encounter. The intent is to summarize various aspects of genetic diseases and how they relate to the role of the physical therapist.

Specifically, the origination and development of some of the genetic diseases physical therapists are likely to encounter are discussed, as are resources available to physical therapists and other professionals for further understanding specific genetic diseases. Clinical features of specific genetic diseases can be found in the references provided.

Physical therapists can play a primary role in the intricate management of genetic disease in a particular patient and address family and social issues associated with these conditions. It is recommended that the physical therapist work closely with genetics professionals so that a mutual and further understanding can be developed for the benefit of all patients with genetic diseases.