Approaches to the patient with neurogenetic disease.
The approach to a patient with a possible neurogenetic disorder is a complex process that challenges the physician's knowledge, diagnostic acumen and counseling abilities. This article focuses on six aspects of the process: 1. Clues suggesting the presence of a genetic disease, 2. The importance of family history, 3. The interpretation of sporadic cases, 4. Genetic counseling, 5. Genetic testing and 6. Available resources.
Bird
Thomas D
TD
Department of Neurology, University of Washington, Geriatric Research Center, VA Medical Center, Seattle, WA, USA. tomnroz@u.washington.edu
D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree