How is Huntington's Disease Diagnosed?

Diagnosis

Huntington’s disease is diagnosed using a variety of approaches. These include:

  • Physical and neurological exams are done to assess symptoms.
  • Genetic testing for the huntingtin (HTT) genetic mutation is performed to confirm the diagnosis of Huntington’s disease.
  • Magnetic resonance imaging (MRI) of the brain may also be done to check for other causes of symptoms.
  • Other blood work may be done as deemed necessary by the evaluating neurologist.

How Is Huntington’s Disease Treated?

Treatment

While there is no cure, treatments for Huntington’s disease may help control symptoms and maximize the quality of life.

Medications

Some medications can help patients manage the emotional symptoms and movement problems associated with Huntington’s disease.

Nutritional guidance

Registered dietitians can provide counseling and recipes for patients and their families to ensure they receive adequate calories from foods they can comfortably chew and swallow.

Rehabilitation

Physical, occupational, speech, and swallowing therapy help patients maintain function as long as possible. Special equipment can help patients continue to communicate effectively and remain mobile while ensuring their safety. Rehabilitation experts at NewYork-Presbyterian work with patients throughout their care and are available to:

  • Evaluate muscle strength and motor skills and develop an individualized program to maintain existing physical function.
  • Recommend devices (including neck supports, canes, walkers, and wheelchairs) and equipment for the home to ensure safety and mobility.
  • Discuss ways to modify activities, conserve energy, and simplify work.

Research & Clinical Trials

Researchers are conducting studies to advance our understanding of the causes of ’this condition and develop effective treatments for Huntington’s disease. At Columbia’s Huntington’s Disease Center, investigators are active participants in the Huntington Study Group, a national research consortium of Huntington’s disease centers. You may have an opportunity to participate in a clinical trial.

FAQs

FAQs

About 41,000 people in the United States have Huntington’s disease.

Huntington’s disease is caused by a mutation in a gene called huntingtin (HTT). This mutation results in damage to the brain that causes Huntington’s disease symptoms.

Get Care

Trust NewYork-Presbyterian for Huntington’s Disease Treatment

NewYork-Presbyterian’s specialized multidisciplinary team of health care professionals provides the highest level of clinical care for people with Huntington’s disease and their families. In addition to our extensive genetic testing and counseling program, we provide neurological treatment and social services and offer assessments and referrals for psychiatric services, counseling, physical and occupational therapy, nutritional support, and speech therapy to help manage symptoms.

Columbia’s Huntington’s Disease Center is unique in that it does not charge patients for their care. Call to make an appointment for the most comprehensive Huntington’s disease care in New York.