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Huntington's Disease

 

 

Huntington’s Disease is an inherited neurological disorder.  It is caused by the degeneration of brain cells in certain parts of the brain.  An estimated 250,000 individuals in the United States are either affected or are at risk of inheriting the disease from an affected parent.  Huntington’s Disease is inherited in an autosomal dominant trait; a parent affected by Huntington’s Disease has a 50-50 chance of passing on the disease to the child.  It affects males and females equally and does not predominate in any specific ethnic or socioeconomic background.

 

Onset of Huntington’s Disease generally begins in mid-life, although symptoms may occur as early as the age of two years.  In cases of childhood onset of the disease, children affected rarely live through their teens.  Early signs of Huntington’s Disease include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of coordination.  As the disease progresses, lack of concentration, diminished short-term memory and judgement, and involuntary movements of the head, trunk and limbs become more evident.  Walking, speaking and swallowing become more and more difficult and eventually, an individual with Huntington’s Disease is unable to care for him or herself.  Death may occur from choking, infection or heart failure.

 

At present, there is no cure for Huntington’s Disease.  Treatments are directed towards the symptoms and not the disease itself.  Various medications are often prescribed to control emotional and movement problems.  Antidepressants and tranquilizers may also be prescribed for severe depression and anxiety.  Medications are prescribed at the lowest possible dose to prevent or minimize any undesirable side effects.  Patients are urged to stay physically active by incorporating an exercise regime, such as walking, in their daily program.  Their diet is also strictly monitored to ensure that they are getting the proper amount of nutrients. 

 

Although there is no cure for Huntington’s Disease, couples at risk now have the opportunity to ensure that their child will be free from this disease.  A new test, called Pre-Implantation Genetic Diagnosis (PGD) tests for genetic defects, such as the Huntington’s Disease gene, in embryos before implantation.  Only embryos without the defective gene will be implanted, considerably reducing the risk of the parent to pass on the disease to the child.

 

 

Click here for more information on PGD

 

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Last modified: 06/09/04