Autosomal Dominant: Huntington's Disease

What is it? 
Huntington's disease occurs when there is a larger Huntingtin gene than normal, the gene produces a protein that isn't normal and then starts attacking the cells in the brain, which will later cause death. This normally occurs in middle age. 


Why is it considered autosomal dominant? 
 This means that "only one copy of the abnormal gene is required for the disease or disorder to be expressed in offspring" (Blackburn).  There is a 50% chance that offspring will have an abnormal gene if their parent has a mutation in a dominant allele of a gene and the sex of the offspring doesn't affect the disease or disorder. It should be noted that the offspring can inherit these traits only from affected parents. An example of a disease that is Autosomal Dominant is Huntington's Disease.  In some cases even with Autosomal Dominant diseases symptoms are more severe or the trait more fully expressed if the inheritance is homozygous.

What are the symptoms? 
Those with Huntington's disease have a hard time communicating because they have a hard time coming up with the right words to say. They also have voice that is hard to hear because it varies from being raspy to very quiet and many times it is hard to pronounce words in a way that is easy to understand. Another symptom is having a hard time thinking things through. They aren't able to organize their thoughts very well, it's hard for them to concentrate and they aren't good with numbers. Another symptom is having a hard time swallowing, people with Huntington's often die from aspiration pneumonia because where they have a hard time swallowing  their food it can go down the airway and into the lungs. 


What treatments are available? 
Currently there is no way to keep Huntington's Disease from progressing and needless to say, there is no cure for it. However, there are medications that can be given to keep the symptoms under control. 








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