Huntington's South Africa

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Huntington Disease (HD) is a genetically inherited disorder of the central nervous system.  It involves gradual loss of nerve cells in the brain.  HD is named after Dr George Huntington who recognised that it was an inherited condition in 1872.  HD usually develops in adults and can cause both men and women a wide range of symptoms.  The symptoms of HD usually develops when people are between their 30's to their 50's.  Although this can vary from person to person, even in the same family, some may start earlier and others may start later. 

Early symptoms include slight, uncontrollable muscular movements, stumbling and clumsiness, lack of concentration and short-term memory lapses, depression and changes of mood, sometimes including aggressive or anti-social behaviour.  There will be great strain placed on relationships especially when temper outbursts are directed towards the partner.  Later in the illness, people may experience different symptoms and these can vary from person to person.  They may include involuntary movements, difficulty in speech and swallowing, emotional changes such as frustration, mood swings, depression, stubbornness and weight loss.  In the later stages of HD, full nursing care will be needed. 

HD is inherited as a dominant trait.  Any parent who carries the faulty gene will have a child who has a 50-50 chance of inheriting the same faulty gene.  However, if a child does not inherit the gene they cannot pass it on to their own children.  The chain of inheritance is then broken. 

There is no treatment or cure for HD at this moment.  There is also no treatment to slow the progression of the disease.  There are some prescription drugs that can help control some of the symptoms especially the involuntary movements and psychiatric conditions such as depression and mood swings.  Speech therapy can improve speech and swallowing problems.  A high calorie diet can prevent weight loss and improve symptoms such as involuntary movements or behavioural problems.   

Predictive testing determines if a person has inherited the faulty gene that causes HD.  Predictive testing allows for family members over the age of 18 years old to find out if they are at risk before any clinical signs present.  Predictive testing cannot show the age at which they will develop the disease.

Genetic counselling is strongly recommended.  Genetic counselling provides information on the condition, its inheritance pattern, risks to other family members and the prognosis.