Problemas etios

René Dieck #9
May, 20, 2012 10C
Huntington disease
Investigation
 Is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive declineand psychiatric problems. It typically becomes noticeable in mid-adult life. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, and indeed the disease used to becalled Huntington's chorea.
It is much more common in people of Western European descent than in those of Asian or African ancestry. The disease is caused by an autosomal dominant mutation in either of anindividual's two copies of a gene called Huntingtin, which means any child of an affected parent has a 50% risk of inheriting the disease. Physical symptoms of Huntington's disease can begin at anyage from infancy to old age, but usually begin between 35 and 44 years of age. Through genetic anticipation, the disease may develop earlier in life in each successive generation. About 6% of casesstart before the age of 21 years with an akinetic-rigid syndrome; they progress faster and vary slightly. The variant is classified as juvenile, akinetic-rigid or Westphal variant HD.

SummaryHuntington's disease is an inherited brain disorder that cannot be cured. Typically, it affects people in middle age and causes loss of muscle control and the ability to concentrate. It also causesemotional problems. Diagnosis involves several steps and includes blood testing for the faulty gene. Some symptoms of Huntington's disease can be treated, but the drugs can have significant side effects.Caring for someone with Huntington's disease can be challenging and caretakers should consider getting involved with support groups. The disease cannot be prevented and people who have the disease in thefamily may want to think carefully about starting a family. Research is looking at how the faulty gene causes disease and how symptoms can be controlled.

Questions:
* What are the symptoms...