Making the Huntington’s Disease Diagnosis

A clinical diagnosis of Huntington's disease (HD) is usually made on the basis of family history and the presence of unequivocal motor symptoms. It may be confirmed by a genetic test. While HD can progress similarly, each person experiences HD symptoms in a unique way. 11

 

Providing Hope During Diagnosis

How you communicate a Huntington’s disease diagnosis can have a bigger impact than you may realize. Hear about Ed’s diagnosis experience. 

Genetic Testing Options

Huntington’s disease testing can potentially occur in 3 clinical situations 11:

  • Predictive testing: an HD gene test for an asymptomatic person wishing to know if he or she carries the expanded gene 
  • Confirmatory testing: an HD gene test to confirm a clinical HD diagnosis
  • Prenatal testing: an HD gene test that can assist in family planning

The Decision to Undergo Genetic Testing Is Very Personal 

It is important for your patients to be fully supported before, during, and after their genetic testing journey. Involving a team of HD specialists, including genetic counselors and social workers, will help your patients navigate these complex choices. The Huntington’s Disease Society of America (HDSA) has created testing protocols that can help during this process. 11,12

A Personal Choice

While siblings each have a 50/50 chance of inheriting the huntingtin gene mutation, the decision to undergo genetic testing is unique and personal to every individual. Watch Jeanette and Jackie’s story. 11,12