Causes and Diagnoses

Causes and Diagnoses of Huntington’s Disease

Huntington's disease (HD) is a genetic disorder passed on from parents to children. If a parent has HD, the child has a 50 percent chance of developing it too. Children who don’t inherit the gene will not develop the disease and will not pass it along to their children. One to three percent of people with HD have no family history of the disorder.

Diagnoses of Huntington’s disease

Many symptoms of Huntington’s disease are the same as those caused by other diseases. An accurate diagnosis usually requires a detailed physical and neurological examination, including a family history.

Blood tests, specifically genetic testing, can determine the likelihood of developing Huntington’s disease.

Additional procedures that may help in the neurological workup may include:

• Computed tomography (CT) scan
• Magnetic resonance imaging (MRI) scan

What to Expect:

Genetic Testing Protocol:

If you are interested in genetic testing for HD, basic information will be gathered over the phone prior to your visit including a brief family history and reason for contact, and whether you are requesting to be seen for asymptomatic testing or symptomatic testing. An appointment is then scheduled during one of our HD clinic days with a movement disorders neurologist and genetics counselor. You are encouraged to bring a support person with you. During the visit, options for family planning with HD are discussed if applicable. We also review testing procedures including insurance coverage, cost, possible results, accuracy, and timelines. Blood may be drawn at this appointment for testing if the individual decides to proceed with the test, or at a future visit. If testing is ordered, a results disclosure appointment is made to go over the results in person.

Huntington’s Disease Clinic Appointment:

For people interested in establishing care for HD, or being assessed clinically for HD related symptoms, a comprehensive HD clinic evaluation will include a meeting with a movement disorders neurologist, a neuropsychiatrist, a genetics counselor, and a social worker. You may be referred to our rehabilitation team at the Shirley Ryan Abilitylab as well.

For questions about scheduling an appointment, please call 312.695.7950 or email HD@nm.org and a member of our team will be in touch. Please note, this email is not intended to be used for specific clinical questions or issues. Please continue to call 312.695.7950 or use the MyNM Patient Portal to contact your treatment team.