10. The Diagnostic Dilemma: The Challenges of Diagnosing HD
Diagnosing Huntington’s disease can be a complex process. While the definitive diagnosis relies on a genetic test, many factors contribute to the decision to test, and the interpretation of the results isn’t always straightforward.
Before even reaching the stage of genetic testing, the clinical diagnosis of HD can be challenging. The wide range of symptoms and their overlap with other conditions can lead to delays in diagnosis or misdiagnosis. Additionally, many people are unaware of their family history, further complicating the diagnosis.
The decision to undergo genetic testing for HD is laden with emotional, psychological, and ethical considerations. The test can confirm the diagnosis in someone showing symptoms, but it can also predict the development of the disease in someone currently symptom-free, which can be a burden to bear.
Interpreting the genetic test results can also pose challenges. If the number of CAG repeats falls within the ‘gray area’ of 36-39, the individual might develop HD, but it’s not certain. Such a result can lead to a significant amount of uncertainty and stress. (10)
