Some Signs and Symptoms

Huntington's is a rare neurological disease caused by a faulty gene on chromosome four. It leads to the overproduction of a protein called ‘Hunting T’, which ultimately damages the brain. Both men and women can be affected by Huntington's disease, and every child of an affected person has a 50% chance of inheriting the disease. So if a family have five children, they all have an equal chance at conception of inheriting the faulty gene. If you do inherit the Huntington's gene, you will at some point go on to develop the disease. So if you don't inherit the Huntington's gene, the line stops there with you.. The most common age to start showing signs of Huntington's disease is between 35 and 55 years, but there are juvenile versions of the disease that some young children can inherit - it's quite rare. There's also a mature onset version of the disease where people get into their 60s, 70s, and even 80s before starting to show signs.

So the three main areas of change; there's physical, the motor functions that affect movement, swallow, and speech. There are the cognitive symptoms which affect how people plan and reason and think ahead. And then there are the emotional changes which affect how people manage their feelings and their emotions. Chorea is the biggest symptom for people, and that's a Greek word which means dance. And that's talking about the involuntary movements that people have - large involuntary movements of the arms, legs, the trunk and the head. Swallowing becomes affected, so people find it harder and harder to control. The swallow becomes weak and they're not able to eat foods that they used to be able to, and the speech becomes harder to understand, more slurred and then that changes as their disease progresses. People lose the ability to be able to plan ahead, organize their thoughts, to be able to reason… reason on their decisions. They can become apathetic and not able to motivate themselves to action.

Depression is a big part of Huntington's disease and people often become very depressed, but they do respond well to antidepressants. They may have trouble controlling their emotions, they may veer from tearfulness to anger. They may suffer with angry outbursts, they become very irritable. Some people would suffer all of those symptoms, where others may just suffer from a few. There's also difficulty with multitasking, so the person may become fixed on a task or activity to the detriment of other things, such as personal hygiene. There's a need for routine, a preference for scheduled times such as eating, bathing and dressing, where changes to that routine can make a person really obstinate and anxious. There is poor memory and concentration, and this can affect short-and long-term memory, requiring prompts.

There's repetition, so people will repeat the same questions over and over and get stuck on a subject, making it difficult to move topics on. They have an inability to read facial expression, so it may appear that the person is oblivious to the mood of others, or they might have difficulty reading other people's faces. They need extra processing time because the brain is working so much slower. It may take longer, sometimes many minutes, for the person to respond to a question or request. There may be a lack of insight or awareness, a general inability to gauge their actions as the disease progresses. They might be unaware of how their symptoms affect other people. As the disease progresses, people become more rigid in their arms and legs and may have difficulty picking things up with fine motor control.

Weight loss is a common feature. This is caused by a change in metabolism, but also if people have a lot of involuntary movements, they're burning up a lot of calories so they may need an increased calorie diet just to maintain their weight. Incontinence understandably distresses people, but it's usually due to the messages not getting through to the brain. The brain's working much slower than it used to, so the messages are not getting through in time. The immune system is compromised; people may be more prone to infections and that needs to be managed carefully.

Impulsivity - so changes in the brain may make the person more impulsive in their speech and their actions. People are unable to wait - this is not because the person is selfish or impatient, but a direct impact of the disease on the brain. There are communication challenges, difficulty relaying feelings - information and requests can lead to misunderstanding with others and frustration on the part of the person with Huntington's disease. People may feel really frustrated.

Those cognitive changes that they're having cause frustration, which occasionally leads to temper outbursts. People become apathetic. People who have always been active may suddenly find it difficult to motivate themselves and they might just prefer to watch the television. Depression - which is common throughout all phases of the disease.

And it's important to liaise with the specialist services, such as your GP and psychiatry. Repetitive loss and bereavement that people experience mean that they have a constant realization that their present, future independence and family life will change. They may have irrational and dis-inhibitive behaviours. Some people may develop obsessions around objects or people and displace some of the social norms that govern our lives, such as undressing in public. They may become socially isolated and this could be self-imposed, or as a result of the impact on friends and family.