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About Huntington

What is Huntington's disease?

Huntington's disease, which is often called HD, is an hereditary disorder of the central nervous system. It used to be known as Chorea Huntington. Huntington's disease usually develops in adulthood and can cause a very wide range of symptoms. The disease affects both men and women. Juvenile Huntington's disease (JHD) refers to anyone who develops signs or symptoms of HD before they are 20 years old. It is a relatively rare condition and only about 5-10% of people affected with HD will develop  symptoms this young. This can make it quite an isolating experience for the person affected by HD, their family and any professionals that are helping them.

 

What causes Huntington's disease?

Huntington's disease is caused by a faulty gene on chromosome 4. The gene, which   produces a protein called Huntingtin, was discovered in 1993. In some way - which is not yet understood - the faulty gene leads to a damage of the nerve cells in areas of the brain, including the basal ganglia and cerebral cortex. This leads to gradual physical, mental and emotional changes.Each person whose parent has Huntington's disease is born with a 50-50 chance of inheriting the faulty gene. Anyone who inherits the faulty gene will, at some stage, develop the disease. A genetic test is available from Reg. Genetic Clinics throughout the country. This test will usually be able to show whether someone has inherited the faulty gene, but it will not indicate the age at which they will develop the disease.

The early symptoms of HD:

The symptoms of HD usually develop when people are between 30-50 years old, although they can start much earlier or much later. The symptoms can also differ from person to person, even in the same family. Sometimes, the symptoms are present for a long time before a diagnosis of Huntington's disease is made. This is especially true when people are not aware that Huntington's disease is in their family. The early symptoms include:

  • slight, uncontrollable muscular movements
  • stumbling and clumsiness
  • lack of concentration
  • short-term memory lapses
  • depression
  • changes of mood,

sometimes including aggressive or antisocial behaviour Great strain is put on relationships if unexpected temper outbursts are directed towards the partner. The time before a diagnosis is made can be very confusing and frightening because people do not understand what is happening and why. Some people who know they are at risk spend time searching for the first signs that they are developing the disease. They may worry about simple things like dropping a cup, forgetting a name or becoming unusually bad-tempered. Most people do these things occasionally - whether they are at risk from Huntington's disease or not - so they could be worrying unnecessarily. Anyone who is concerned should have a word with their GP who may refer them to a neurologist for tests. These tests could include a number of simple assessments and possibly a brain scan. The genetic tests mentioned above may also be used to aid diagnosis. 

How HD progresses:

Later on in the illness people experience many different symptoms which may include: 

  • involuntary movements
  • difficulty in speech and swallowing
  • weight loss as well as emotional changes resulting in: 
  • stubbornness
  • frustration
  • mood swings
  • depression
  • aggression 

Cognitive changes that people experience can result in a loss of drive. Initiative and organisational skills, which may  result in the person appearing to be lazy. There also may be difficulty in concentrating on more than one activity at a time. Sometimes, psychological problems, rather than the physical deterioration, cause more difficulties for both the person with Huntington's disease and their carers. Some changes are definitely part of the disease process although they made be made worse by other factors. It is depressing to have a serious illness and extremely frustrating not to be able to do things which previously seemed simple. In the later stages of the disease, full nursing care will be needed. Secondary illnesses, such  as pneumonia, are often the actual cause of death. 

What treatment and help is available?

Currently there is no cure for the illness, but  there are some ways to manage symptoms more or less effectively. Medication can be used to treat symptoms such as involuntary movements, depression and mood swings. Speech therapy can significantly improve speech and swallowing problems. A high calorie diet can prevent weight loss and improve symptoms such as involuntary movements and behavioural problems. Social services in your local area can assist with practical issues such as appropriate adaptations to your home where necessary and they can also help with care at home or respite care. They can also assist with the provision of equipment if necessary, but at the end, there is no help without money and paying for it. 

Aim of the self-help-group (Huntington-Selbsthilfegruppe-Salzburg)

The Huntington self-help-group was founded in 2007 and has been working to increase public awareness, to provide support for individuals and their families and to promote research. Another target is to establish two day care centres, where HD-Patients can stay during the day, while their relatives can go to work and to manage their daily life, in addition to the special nursing centre Gunther Ladurner Pflegezentrum at the Christian Doppler Klinik. All this is only possible with the generous help of sponsors and supporters.

HD - patients and their relatives do have the possibility to visit the special Huntington Ambulance at CDK (Christian Doppler Hospital) Zentralambulanz in Salzburg.

Please call for an appointment until 11:00 am under 0662 / 4483 ext. 3802  

further very useful information about HD you find under:

http://en.hdbuzz.net/