ABSTRACT

Neurologists have an important role to play, along with others, in the support of people with Huntington’s disease (HD) and of their families. After outlining the genetics and clinical and pathological features of HD, this chapter considers five groups of management and rehabilitation issues, corresponding to five stages which are often experienced successively by the same individual. In the first phase, a person at risk of HD requires primarily genetic advice. Those who are tested positive for the HD mutation enter a second phase during which they might have no clinical symptoms, but are very likely to do so. The process of establishing the diagnosis forms a third stage, and early and late HD comprise two further phases, each associated with some relatively distinctive issues. All too often, existing services are not merely inadequate but irrelevant, and we conclude the chapter by considering how to tailor services to the many different needs that HD families present.