There is also juvenile Huntington’s that affects about 5% of people before the age of 20 and is more severe.
Symptoms
There is no typical pattern of symptoms in Huntington’s, or at what age the person starts to show symptoms. Generally, it progresses and worsens for 10 to 20 years until the person eventually dies. Death is usually from a secondary cause such as heart failure or another infection.
Huntington’s affects movement, uncontrollable movements of the limbs and body parts, eye movement can be affected. As the disease, progresses the uncontrollable movements become more and more frequent and extreme. Swallowing can be a problem, so choking on food and drink particularly thin drinks like water can be probable.
The disease affects behaviour and is often the first symptom to appear. A person with the disease may seem stubborn; irritable, depressed and gets frustrated. They can also have a higher number of mental illness problems such as mania and schizophrenia. They can also have a lack of inhibitions, showing a lack of interest in personal hygiene.
Communication
Huntington’s affects all communication, cognition and speech. People with this disease often have difficulty putting thoughts into words and slur their speech. They understand what you are saying but cannot necessarily communicate that they understand or respond too you. Impaired breathing can also make speech and articulation difficult. In the later stages of Huntington,’s the person will become totally dependant and require full nursing care.
Causes
Huntington’s is caused by an error in the genetic code that programmes the way the body works. The mistake lies in a defective gene on chromosome 4; this gene produces a protein called huntingin. The pattern of inheritance in Huntington’s is called autosomal dominant inheritance.
The defect affects the production of certain brain enzymes, these proteins are involved in making essential brain chemicals. This leads to damage and progressive loss of the nerve cells in areas of the brain this causes behavioural problems and a build up of the brain chemical dopamine causes the movement problems. The parent with the Huntington’s gene has one good copy of the gene and one faulty copy so therefore the child stands a 50-50 chance of inheriting the disease. If the Huntington’s is inherited from the father, it tends to be more severe.
In as many, as 3% of cases there is normally no family history of the disease. This can be due to adoption or relatives with the disease have died early from other causes or it can be a new genetic mutation
Treatments and research
Some treatments are used to manage symptoms. Medication in the form of anti-depressants can help; drugs tetrabanazine can help reduce the build up of the chemical dopamine in the brain, which can help control the involuntary movements.
People with the disease need to have a high-calorie diet. Help with eating and drinking, food should be easy to chew digest and swallow. In the later stages, alternative feeding methods such as a naso-gastric tube may be necessary.
An occupational therapist can help with mobility and day-to-day activities. Grants are available from social services for help in adapting your house and making the environment safe.
Research
There is no way to prevent the disease, and there is currently no cure available. Research is ongoing and we are researching better ways in trying to understand the cause of the nerve cell death and trying to identify a way of interfering with the faulty gene so it does not cause Huntington’s Research is also being undertaken in creating a drug that will slow the progress of the disease. It may be many years before we are any closer to discovering a new effective treatment for Huntington’s disease.
