Huntington's Chorea
Trevor Gawronski
Summary
Huntington's Disease is a disease that primarily causes involuntary jerking movements called Chorea. Nerve cells in certain parts of the brain degenerate, causing a wide array of problems for the affected person.
Interesting Facts
-Most common in people of Western European ancestry
-The number of people at risk is far higher than those who are actually affected
-Juvenile-HD is more common when inherited from a father
-Cases have occurred at ages 2 and 80
-Suicide rates of people with HD are 5 times the average
Genetic Transmission
Huntington's Chorea (Also known is Huntington's Disease, or HD) can only be transferred through genetics. Anyone whose parent has HD has a 50/50 chance of inheriting it. The gene is a dominant gene, meaning anyone who inherits it will eventually develop the disease. The disease occurs with a mutation in either of the two genes called Huntingtin. In 1993, scientists discovered that this mutation occurrs in chromosome four.
Diagnosis, Symptoms, Frequency
Diagnosis
Diagnosing can begin before birth or during childhood (before symptoms are present) only if a parent or relative is known to have HD. This allows a mother to consider abortion before delivering the baby. Testing can also be conducted to determine whether symptoms that are occurring are in fact HD. Specialists can either do brain-imaging test to record brain activity, or use an Electroencephalogram (EEG) if seizures are involved.
Huntington's Disease Karyotype
Normal Male Karyotype
Normal Female Karyotype
Symptoms
-Involuntary Movement of the arms, legs, head, face, and/or upper body
-Clumsiness/Stumbling
-Teeth Grinding
-Poor Concentration/Forgetfulness
-Poor Judgement
-Difficulty Making Decisions or Answering Questions
-Depression, Anxiety, Anger
Frequency
Huntington's Disease occurs in around 12.4 people for every 100,000 in the UK, where the disease is more common. Unfortunately, recent trends show that this number may soon double. In the United States, roughly 3.3 people for every 100,000 have it.
Life Expectancy, Treatments, Cure
Life Expectancy
Huntington's Chorea is a disease that will be deadly. Anyone affected will not die directly of HD, but rather of a heart attack, fall, or accident. The degeneration of certain brain cells will make it impossible for one to support themselves. HD usually appears in ages 30-50. From there, the average life expectancy is anywhere from 10-30 years, the average being 18.
Treatment
The best someone with Huntington's Disease can do is to live positively, and cope with symptoms if possible. Someone with HD is encouraged to maintain a strong diet, exercise, and receive psycho-social support. While medications are able to treat a few of the associated symptoms, HD is currently impossible to overcome.
Cure
There currently is no cure for Huntington's Disease. Scientists are working towards one, using mice to attempt to replicate the disease. While some information about HD is known, a cure is most likely not close to finishing.