Case 24. Huntington Disease

● Huntington disease (HD) is a progressive neurological disorder that typically has its onset in the early 40s. ● HD is an autosomal dominant disorder. Genetic testing can determine whether a person has inherited HD prior to the onset of symptoms. ● Because of the lack of treatment for HD, the decision of an asymptomatic at-risk individual to undergo genetic testing is a personal one, based on the value of the information to the individual. ● Identification of the genetic change that causes HD in an individual at 25% risk (for example, the grandchild of an affected person) also reveals information about the genetic status of that individual's parent. ● The current standard of care calls for the provision of genetic counseling prior to genetic testing for HD. Genetic counselors are trained to help individuals who are considering testing to cope with the emotional, psychological, and ethical issues associated with the testing decision.