chapter  Case 41
2 Pages

Genetic disorder

This chapter, written for undergraduate medical students and post-graduate doctors in training, presents information on how to manage genetic disorder — a case which they are likely to encounter in the future in a general practice setting. It provides details of the patients' medical history and the key findings of clinical examination, together with initial investigation results data for evaluation, and helps them develop their skills of clinical reasoning. Key questions then prompt the student to evaluate the patient, and reach a decision regarding their condition and the possible treatment plan. The chapter presents the case of a 63-year-old woman with a recent suicide attempt, an alcohol problem, hypertension and a family history of Huntington's disease. As part of the sessions, the general practitioner (GP) and the patient spend some time talking about whether genetic testing might be appropriate at this stage. Unfortunately, the test result reveals that she does indeed have the disordered Huntington's gene.