Orphan SA :: Hungtington's Disease

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      This patient educational material on this website does not provide all available information about this condition and is not intended as a substitute for seeking professional medical care and advice. If you have any further questions or concerns, please discuss them with your doctor.

      HUNTINGTON’S DISEASE (HD)

      What is Huntington’s Disease (HD)?
      Huntington’s Disease (HD), also known by the name of Huntington’s Chorea, is a rare inherited disorder, affecting 1 in 10,000 of the population (0.01%). It was first described by George Huntington in 1872.

      Chorea is characterised by brief involuntary muscle contractions, where patients experience ceaseless occurrence of rapid, jerky involuntary movements and an inability to sustain voluntary contractions.

      What causes Huntington’s Disease?
      Huntington’s chorea is a genetic, autosomal dominant, degenerative brain disease. A person who has an affected parent, has a 1 in 2 chance of inheriting the disease. The cause of the HD has been linked to the defective gene found on the human chromosome 4. This defective gene was first isolated in 1993 and codes for a protein called huntingtin. Further investigation found that the genetic mutation on this defective gene was due to a segment of DNA strand, that was repeated over and over at one its gene end.

      HD usually begins during the middle stages of life (35 to 50 years of age) but can occur before the age of 20. Both sexes are equally affected.

      What are the signs and symptoms of Huntington’s Disease?
      The signs and symptoms associated HD will vary between each person and the severity of these will also depend on the age of onset. These include some of the following:

      Early stage:
      • Slight, uncontrollable muscular movements
      • Stumbling and clumsiness
      • Lack of concentration
      • Short-term memory lapses
      • Depression and changes of mood
      • Aggressive or anti-social behaviour
      Progressive stage:
      • Involuntary movements
      • Difficulty in speech and swallowing
      • Weight loss
      • Emotional changes resulting in stubbornness, frustration, mood swings and depression

      In summary, the three major areas which HD patients have difficulty in controlling are:

      • Bodily movements
      • Intellectual functioning, and
      • Emotional control

      Are there other diseases associated with Huntington’s Disease?
      Several other disorders are associated with HD; these include mental functioning and emotional disorders as those signs and symptoms listed above.

      How is Huntington’s Disease diagnosed?
      Huntington’s Disease is diagnosed on the basis of the genetic testing for the gene, Huntingtin, found at chromosome 4, or most commonly on the basis of familial history and clinical presentation.

      What is the prognosis?
      There is no cure for HD. The course of the disease is progressive but variable; some patients have minimal symptoms, while others deteriorate within 15-30 years with fatality or disability.

      What treatment options are there? Can HD be treated?
      Treatment of HD is symptomatic and tailored to the individual patient. A multidisciplinary approach involving a neurologist, psychologist, psychiatrist, and a social worker is often necessary. Psychoses and chorea may improve with certain neuroleptic medications, but these drugs can induce tardive dyskinesia and other side effects.

      Various types of medications are available, to assist in relieving some of the symptoms of the condition, your doctor will be able to advise you on.

      Remember, your doctor is the best source of information regarding you and your health. Please consult your doctor if you have any questions about your health, your condition or your medication.

      Where can I find more information about this condition or support organisations?
      Additional information is available from the following website(s):

      The information is intended for use only by customers, patients and health care professionals within Australia. Countries outside Australia may have regulatory and legal requirements, and available medical treatments, which are different than those in Australia.
       
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