Clinical approach to the patient with neurogenetic disease.

Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all "reservoirs" of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic) cases is often necessary. Then the physician can proceed to the differential diagnosis, genetic testing, and genetic counseling. A team approach including a genetic counselor is usually the best strategy.