Huntington's disease pamphlet

Huntington disease is a fatal disorder which is inherited in an autosomal dominant pattern from one affected parent. The disease is considered a progressive brain disorder because it causes uncontrollable movements, emotional problems and loss of cognitive abilities. Huntington’s disease affects people of European ancestry more frequent in that 3 to 7 per 100,000 are diagnosed (Huntington ’s Disease, 2015). Huntington’s disease is caused by a mutation in the HTT gene, which provides instructions for making a protein called huntingtin (Huntington’s Disease, 2015). The damaged gene causes excessive repeating of a segment of our DNA known as a CAG trinucleotide. Repeats of this segment 40+times and more, almost always causes Huntington’s disease to develop. The repeated CAG segment causes an excessively long huntingtin protein to form. It is then that the protein is cut into smaller subsections. These abnormal fragments then bind back together and accumulate in ones neurons; disrupting their normal function, and eventually causing cell death. It is the deterioration of these neurons that initiate the 3 stages of Huntington’s disease.” Symptoms typically appear between the ages of 35-44 years” (Living with HD, 2015).

The progression of Huntington’s disease evolves through stages. In the early stage, individuals begin to notice mood differences, changes in how they move, as well as cognition delays. During this early stage, one can expect to be able to function, work, and drive with little to no assistance. The mid-stage is when people experience difficulty performing voluntary motor tasks, swallowing and balancing, while find it difficult to control movement. During this stage, individuals will often lose their ability to work and drive. Assistance to perform daily tasks associated with living is required. Reduced cognition during this mid-stage often leads to irritability, aggression and depression (Living with HD, 2015). Lastly, is the late stage. Assistance is required with all activities associated with daily living. One is also at high risk for losing their ability to speak. Chorea (abnormal involuntary movement) can be severe, or replaced by movement symptoms such as rigidity and dystonia. Even though movement and voluntary motor skills are compromised, the diagnosed is still able to comprehend their surroundings. Life expectancy for Huntington ’s disease patients is usually 15-20 years after symptoms are first expressed (Living with HD, 2015).

References

Genetic’s Home Reference. ( 23 March, 2015). Huntington’s Disease. Your Guide to Understanding

Genetic Conditions. Retrieved from www.ghr.nlm.nih.gov/condition/huntington-disease

Huntington’s Disease of America. (2015). Living with HD. Retrieved from hdsq.org/living-with

huntingsons/family-care/stages-of-hd.html