Related Experiment Video
Updated: Feb 15, 2026

In Silico Clinical Trials for Cardiovascular Disease
Published on: May 27, 2022
Clinical approach to the patient with neurogenetic disease
Thomas D Bird1, Corrie O Smith2
1Department of Neurology, University of Washington, Seattle, WA, United States; Geriatric Research Center, VA Medical Center, Seattle, WA, United States.
Abstract:
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.
Related Concept Videos
Chronic Kidney Disease II: Clinical Manifestations
Coronary Artery Disease III: Clinical Manifestations
Gastroesophageal Reflux Disease II: Clinical Features and Management
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.

