You Ask , They Answer
Q
: What ’ s Huntington ’ s disease and its telltale signs ?
A
: Huntington ’ s disease ( HD ) is an inherited condition caused by a single abnormal gene that comes from your affected parent . It is said that if you inherit the abnormal gene you will definitely develop the condition . In most people , it presents in mid-life , but it can present at any age . The abnormal gene is thought over time to cause some nerve cells in the brain to become unwell and stop working and then die . This leads to problems in the patient who can then present with abnormalities of movement , typically dance-like flicking movements called chorea that affect all parts of the body , often with a change in personality along with irritability , slowness , and loss of empathy and thinking abilities . So these are some of the telltale signs .
Q
: Who should have a genetic test ? Can treatment be started to reduce such risk ?
A
: Taking a genetic test for HD is a personal choice . In some people , they want to know whether they carry the abnormal gene even if they have no symptoms or features of HD . This predictive genetic test is available in many countries . In people with symptoms and signs of HD , they can also have a diagnostic genetic test to confirm the diagnosis . In all parts of the world , but to varying degrees , there are other genetic conditions that can look like HD , and many of these can be looked for if the HD gene test comes back negative . Indeed , there are also nongenetic conditions that can look like HD , but in these cases there is typically no family history . There are currently no treatments that reduce the risk of having HD . However , some countries offer I�F as a way of ensuring that the implanted fertilised egg does not carry the abnormal HD gene .
Q
: What are the treatment options and which benefits can patients expect from them ?
A
: There are currently no curative treatments for HD . All the drugs currently in use can only help the symptoms and signs , and this includes drugs that help suppress the chorea ( e . g ., drugs like tetrabenazine , olanzapine ), drugs that can help mood disturbances which are common in HD ( e . g ., anti depressants , anxiolytics ), and drugs to help with sleep problems which are also common in this condition . We have no drugs that help with memory problems unless these are caused by low mood . There are also many other therapies that may help patients , such as speech and language therapy and dietary advice and supplements ( as weight loss can be a big problem ). Most patients obtain some benefit from these drugs , but typically they only alleviate aspects of the problem rather than rid the patient of them .
Q
: Do you have any advice for caregivers who take care of people with Huntington ’ s ?
A
: It can be very di�cult managing people with HD because of the problems they have around mental health , mood , and physical control . Patients with HD also have little insight into their condition and this includes others ’ feelings towards them- as such they sometimes seem rather unconcerned and uncaring to those trying to help them . It is normally best as a caregiver to be aware of this and to also understand that the patient may not be able to follow logical arguments . Therefore , it is often best to work around problems rather than confront them . It is important to ensure you are well supported by services so that you , the caregiver , do not get worn out and unwell .
Dr Roger Barker
Dr Roger Barker is Professor of Clinical Neuroscience and Honorary Consultant in Neurology at the University of Cambridge and at Addenbrooke ’ s Hospital .
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