Huntington's Disease

Abstract

Huntington's disease (HD) is an inherited neurodegenerative disorder with a prevalence of 1 in 10 000. It is an autosomal dominant condition characterized by involuntary movements, changes in behaviour and cognition as well as psychiatric manifestations. There are currently no treatments that will cure or slow its progression. But, direct mutation testing allows a definitive diagnosis to be given and at-risk individuals to undergo predictive testing if they so wish. HD can be multigenerational in its impact upon a family which means GPs are in a unique position to educate, support and coordinate care for these patients. The aim of this article is to give an overview of HD, including its genetics, clinical features, different types of genetic testing and reproductive options as well as to introduce some of the ethical issues that can arise during a consultation. Many of the concepts covered are applicable to other genetic conditions that GPs may come across in their practice.