Diagnosing Huntington's Disease

How is Huntington's Disease Diagnosed?

If you suspect you have Huntington's disease, it is crucial to consult your GP. They can refer you to a neurologist for a comprehensive diagnostic process, which includes clinical and genetic testing.

Diagnostic Process

If symptoms are already present, the diagnosis may be based on a combination of:

• Medical History: Assessment of current symptoms and family history.
• Clinical Findings: Examination by a neurologist.
• Genetic Testing: A blood test to confirm the presence of the Huntington's gene.

Predictive Testing

If you are at risk of Huntington's disease due to a family history but do not yet show symptoms, you might consider a predictive test. This involves:

• Counselling: Typically, three sessions with a genetic counsellor are required before undergoing the predictive blood test.
• Genetic Service: Testing is conducted at a regional genetic service clinic.

The Emotional Impact of Diagnosis

Receiving a diagnosis of Huntington's disease can have varied emotional impacts:

• Personal Concern: For some, like one individual who shared, "My first thought was not for myself but for my children. Knowing they have a 50% chance of inheriting the disease is far more frightening than the disease itself."
• Relief and Understanding: Others, such as a carer, may feel relief upon diagnosis, realising that behavioural and cognitive changes were due to the disease rather than personal issues.

Challenges in Diagnosis

Occasionally, individuals may be misdiagnosed with conditions such as schizophrenia or bipolar disorder before the physical symptoms of Huntington's disease become apparent. In the absence of a clear family history, it can be challenging to diagnose the disease in its early stages.

Early signs of Huntington's disease often include depression and anxiety, which can be misinterpreted as mental health conditions if there is no obvious family history of the disease.

Conclusion

Diagnosing Huntington's disease involves a combination of clinical evaluation, genetic testing, and, for those at risk but asymptomatic, predictive testing with pre-test counselling. Understanding the diagnosis can significantly impact individuals and their families, making accurate and timely diagnosis crucial.