Daniel Claassen, MD, MS, shares his approach to diagnosing patients with HD, as well as communicating with patients about the hereditary nature of the disease.
This is a video synopsis/summary of a discussion involving Daniel Claassen, MD, MS.
In a clinical setting, discussions about Huntington's disease often unfold in 2 scenarios. The first involves symptomatic patients exhibiting movements associated with Chorea, characterized by jerky and rhythmic motions resembling twitching. Typically referred by neurologists, these patients often have a family history of Huntington's disease. The clinic assesses motor symptoms, psychiatric manifestations like anxiety and depression, and cognitive symptoms such as reduced speech production. A blood test is then conducted to confirm the genetic diagnosis.
The second scenario involves at-risk individuals, often family members of those with Huntington's disease, seeking genetic counseling for asymptomatic assessments. Collaborating with genetic counselors, the clinic conducts clinical exams to rule out symptoms attributable to the disease. Genetic testing is approached cautiously to minimize impacts on insurance, mood, or cognitive stability. The emotional toll of testing, regardless of the result, is acknowledged, with some negatively tested individuals experiencing survivor's guilt. The clinic employs blinded genetic testing, keeping results confidential within the medical record, emphasizing the collaborative and comprehensive nature of the process. The journey involves ongoing support, recognizing that decisions around Huntington's disease are rarely isolated occurrences.
Video synopsis in AI-generated and reviewed by NeurologyLive editorial staff.