Identifying Medical Conditions: Huntington’s disease

The prevalence of Huntington’s disease (HD) recorded in the UK primary care records have increased twofold between 1990 and 2010.  By extrapolation to the UK as a whole, it is estimated that there are more than 5700 people, aged 21 years or more, with HD. On this Huntington’s disease Awareness Week we’ve put together information on HD.

What is Huntington’s disease (HD)?

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during their prime working years and has no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the faulty gene.

Symptoms:

The symptoms of HD is described by many as having ALS, Parkinson’s and Alzheimer’s – simultaneously.

Symptoms Include:

  • Personality changes, mood swings & depression
  • Forgetfulness & impaired judgment
  • Unsteady gait & involuntary movements (chorea)
  • Slurred speech, difficulty in swallowing & significant weight loss

Symptoms usually appear between the ages of 30 to 50 and worsen over a 10 to 25 year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications. Everyone has the gene that causes HD, but only those that inherit the expansion of the gene will develop HD and perhaps pass it on to each of their children. Every person who inherits the expanded HD gene will eventually develop the disease. Over time, HD affects the individual’s ability to reason, walk and speak.

Who is at risk?

Every child of a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease. If the child has not inherited this expanded gene, he or she will never develop the disease and cannot pass it on to their children.

Testing:

Genetic Testing- Visit a genetic testing center that follows the guidelines appropriate for the testing. Testing procedures at these centers involve sessions with professionals who are knowledgeable about HD and the local services available. It may take several weeks to receive the results once the genetic test is complete.

Genetic testing for children is typically prohibited before the age of 18, as the child may not understand the full implications of testing and may be vulnerable to pressure from others. However, a child under the age of 18 may be tested to confirm a diagnosis of juvenile-onset HD after a thorough neurological exam.

Prenatal Testing-  For families who wish to have a child who doesn’t have the gene that causes HD, there are a few options. Pre-genetic diagnostic (PGD) testing can be used with In Vitro Fertilization (IVF) to make sure that any fertilized egg implanted does not have the abnormal gene. This can be done without informing the at-risk patient whether or not they have the gene that causes HD. If a woman is already pregnant, she can receive testing for the fetus with a chorionic villus biopsy at 10-11 weeks or via amniocentesis at 14-18 weeks.

More Information on HD-

You may refer to https://www.hda.org.uk/huntingtons-disease/what-is-huntingtons-disease for more detailed information.

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