Neurology, Clinical Genetics

Huntington’s Disease

Introduction to Huntington’s Disease

Huntington’s disease is a genetic condition that affects the brain and the nervous system.

Written by Doctify Team 27/04/2020

What is Huntington’s Disease?

Huntington’s disease is a genetic condition that affects the brain and the nervous system. The disease affects between 5-10 people per 100,000 in the UK. It usually starts to develop in people aged 35-44 years and is more common amongst white populations. People who develop the disease before the age of 20 have more severe symptoms.

What causes Huntington’s Disease?

Huntington’s disease is an inherited condition. The faulty gene responsible is on chromosome 4; this gene makes a protein called huntingtin. This faulty gene means this protein cannot be made which leads to death of brain cells in certain parts of the brain.

Genetic testing can confirm Huntington’s disease. A MRI or CT scan can also show typical signs of the disease. If you have a family history of Huntington’s disease and show typical symptoms a diagnosis can be made on the history.

What are the symptoms of Huntington’s Disease?

The symptoms generally vary from person to person and tend to progress and worsen over time. The symptoms are grouped into 3 categories: problems with movement, problems with cognition, mood and behavioural problems.

The most common movement problem in those with Huntington’s disease is known as Huntington chorea. This is jerky, involuntary movement, which tends to affect your head, arms or legs. In severe cases, you can develop uncontrollable flailing of your arms and legs. Over time you can develop a movement problem known as dystonia. This means you have spasm in muscles that can lead to twisting movements or abnormal postures. Swallowing problems are also common in this disease. This is because Huntington disease can affect the muscles that control your swallowing.

Mood and behavioural problems are often the first signs of Huntington’s disease. You may notice irritability or being easily agitated. You may lose interest in your self-care, for example being untidy or not looking after your appearance. Your judgement can also change which can cause personality changes. Depression is also common.

Cognitive changes such as perception, reasoning, thinking and awareness may be affected. Short-term memory loss may also be one of the first signs of Huntington’s disease.

How is Huntington’s Disease treated?

There is currently no cure for Huntington’s disease, however there is treatment that can delay the onset of symptoms and delay progression of symptoms. There are treatments that can help chorea such as benzodiazepines such as clonazepam and diazepam. Dopamine agonists can help with stiff or rigid limbs. Antidepressants may also be useful in some cases. There are many healthcare specialists that work in a team to treat Huntington’s disease. These include: a Neurologist, a General Practitioner, a Psychiatrist and a Genetic Councillor.

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