13/12/2017 11:45 GMT | Updated 13/12/2017 11:47 GMT

Huntington's Disease: Symptoms, Causes And Treatment

They're sometimes confused with symptoms of other conditions like Alzheimer's.

Huntington’s disease is an inherited illness thought to affect around one in every 10,000 people.

The condition, caused by a faulty gene in a person’s DNA, affects the network of nerve tissues in the brain and spinal cord that coordinate the body’s movement, learning, thinking and emotions.

The error is found in the huntingtin gene that tells the body to produce the huntingtin protein. Normally this protein is vital for the development of the brain, however the DNA error tells the protein to attack brain cells rather than encourage their growth.

The disease is progressive and there’s no cure, but that doesn’t mean life stops after diagnosis. “Living with it means having to adapt to change, taking one day at a time,” according to the Huntington’s Disease Association (HDA).

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Signs

Most people with the disease will develop problems between 30 and 55 years of age and symptoms can sometimes be confused with other illnesses, such as Alzheimer’s disease or Parkinson’s. 

Early signs of Huntington’s include personality changes, mood swings and unusual behaviour - although these are sometimes overlooked or attributed to something else.

According to the NHS, other key signs include:

:: Movement problems such as small but uncontrollable movements of the face or jerking, flicking or fidgety movements of the limbs and body. 

:: Feeding problems, which can occur as a result of the loss of control over movement.

:: Communication problems such as struggling to put thoughts into words and slurring speech.

:: Psychiatric problems such as depression. A few people may also develop obsessive behaviours and schizophrenic-like problems, according to the NHS. 

:: Sexual problems including loss of interest in sex.

Cath Stanley, chief executive of HDA, told HuffPost UK that there’s “a lack of knowledge from health and social care professionals about the disease because it’s rare” and there’s “little knowledge of symptoms and how to treat them” - so awareness is key.

Diagnosis

If you present with some of the symptoms outlined above, you might want to speak to your GP for further tests. Equally, if Huntington’s disease runs in your family, you may choose to be tested pre-emptively. 

Diagnosis for Huntington’s will often involve a physical examination and cognitive assessment, according to Stanley. This might involve testing a person’s thinking, eye movements, balance and movement. 

They may also be required to have a genetic test (blood test). This can help doctors determine whether a person has inherited a faulty gene.

If they have, they’ll develop Huntington’s disease, but it’s not possible to work out at what age. The NHS says most people have roughly 40 years of a normal healthy life before the condition develops.

Treatment

There’s no cure for Huntington’s disease, however a new clinical trial has proven promising for patients. A drug directly injected into patients’ spinal fluid was found to lower the levels of the huntingtins protein which attacks the nervous system.

Professor Tabrizi, director of the UCL Huntington’s Disease Centre, said: “The results of this trial are of ground-breaking importance for Huntington’s disease patients and families.”

The drug will undergo larger clinical trials before being made available to the public. In the meantime, there are other treatment options for Huntington’s comprising both lifestyle changes and medicines.

The NHS recommends therapies including speech and language therapy for people struggling with communication. It also notes that regular exercise is important for both physical and mental health.

Medication may also be prescribed to ease symptoms. Mood stabilisers can help treat irritability or mood swings; while antidepressants can help improve mood swings and treat depression. Medication may also be prescribed to suppress involuntary movements.