Early physiotherapy intervention plays a key role in management of Huntington’s disease (HD) over the life cycle of the disease.
What is Huntington’s disease?
HD is an inherited neurodegenerative disease for which there is no cure. Children of an affected individual have a 50/50 chance of inheriting the faulty HD gene.
The mutation results in degeneration of the basal ganglia. This is a structure in the brain that has links to most other brain areas and is involved in coordination of body movment. People with HD gradually develop physical, cognitive and behavioural difficulties. Ability to maintain functional independence becomes limited by involuntary movements, altered muscle tone, impaired balance, and impaired speech and swallowing. Difficulties with memory, planning, prioritising and problem solving as well as behavioural issues pose an additional challenge for people with HD.
Appearance of symptoms varies between individuals but it generally affects individuals between the ages of 35-60 years of age 1. Following formal diagnosis, symptoms progress over 17-20 years until full nursing care is required. Balance and mobility problems are a common feature 2 , leading to falls, decreased walking ability and sedentary lifestyles 3.
How can physiotherapy help?
People with HD require ongoing health and social care to support their changing needs 4. Maintaining fitness and physical function from early on in the disease process is vital to maintain quality of life in HD and is especially important given the duration of the disease and known burden on healthcare services. Ongoing efforts to define physiotherapy interventions 5, validate outcome measures 6 and conduct robust evaluations of targeted physiotherapy led interventions 7–10 have shown that people with HD can achieve fitness and measurable functional benefit from specific exercise training. Indeed community and home based exercise interventions have also been shown to be enjoyable, acceptable and beneficial for people with HD.
In addition, with referrals from physiotherapists, people with HD can access exercise support
in local gyms through exercise referral schemes (for example the National Exercise Referral Scheme (NERS) in Wales)7,8,11. In the later stages of the disease multi-disciplinary rehabilitation, incorporating physical, occupational therapy, speech therapy and social activities has potential to moderate disease progression has been shown to be crucial to maintaining function 12-14.