Finding Hope with Huntington’s Disease

Huntington’s disease is a genetic brain disorder that over time deteriorates the body and mind.

More than 30,000 people in the United States live with Huntington’s disease — and many more are at risk of developing the condition. If those with the disease survive long enough, they’ll lose the ability to perform everyday tasks.

But work from the UPMC Huntington’s Disease Center of Excellence offers hope that patients can live fuller, more independent lives.

“At one point if people would get the diagnosis of Huntington’s, they were told to get a nursing home,” said Valerie Suski, DO, director of the UPMC Huntington’s Disease Center of Excellence.

“That’s not the case anymore. We can keep people at home. We can keep them as independent as possible.”

What Is Huntington’s Disease?

Huntington’s disease (HD) is a progressive breakdown of nerve cells in the brain. Dr. Suski said the condition broadly affects a person’s movement, thinking, and mental health.

“It hits the three M’s — mood, movement, and memory,” Dr. Suski said.

Many people develop symptoms in their 30s or 40s, though the disease can occur at any time in someone’s life. The life expectancy of those with adult HD is about 20 years after symptoms begin.

Causes of Huntington’s Disease

HD is a genetic condition, caused by inherited mutations in the HTT gene.

It is an autosomal dominant disorder. This means a person only needs to inherit one copy of the mutated gene to develop HD. If a parent has the defective gene, their child has a 50 percent chance of also inheriting it and developing the condition.

Symptoms of Huntington’s Disease

The tell-tale sign of HD is uncontrolled movement — muscle spasms, fidgeting, and difficulty walking, for example. But the condition can also alter a person’s cognitive thinking and mood. Symptoms can include:

  • Movement Issues: Involuntary jerking, poor coordination, rigid muscles, abnormal gait, poor balance, and/or difficulty speaking.
  • Cognitive Issues: Difficulty focusing, problems learning new information,  and/or difficulty controlling emotions or impulses.
  • Psychiatric Issues: Feelings of depression or anxiety, fatigue, obsessive-compulsive thinking, irritability, aggression, and/or increased suicidal thoughts.

“We have a lot of people who will come in and say they were diagnosed with schizophrenia or bipolar disorder, or someone thought they were drunk because they had poor balance,” Dr. Suski said.

Symptoms may vary and worsen as the disease progresses, and symptoms can vary in severity for different patients.

Testing and Diagnosis

Your neurologist will look at motor symptoms, like your reflexes, balance, and muscle strength. They may perform a series of tests to evaluate your mood, reasoning, and language. Brain-imaging tests, such as an MRI, can assess the function of your brain. They’ll also ask about your family history.

If your symptoms are suspicious, your doctor will likely recommend a genetic test to see if you carry the mutated gene.

Treating Your Huntington’s Disease

There is no cure, but medications and treatment can lessen some of the movement issues associated with the disorder — and help you lead a more independent life.

The Huntington’s Disease Center of Excellence at UPMC

The UPMC Huntington’s Disease Center of Excellence is one of 39 programs across the country leading the way in HD treatment.

This once-monthly clinic is staffed by specialists from multiple medical disciplines, all of whom have been trained in the treatment of HD. The program provides the comprehensive care people with HD need — all under one roof. Services include:

  • Social work, including a seven-day-a-week helpline and support groups for patients and families.
  • Psychiatry to manage mood disorders.
  • Genetic counseling to assist patients pre and post-gene testing.
  • Physical therapy to address the physical limitations of the disease.
  • Occupational therapy to offer tools for better daily living.
  • Speech therapy to deal with speech and swallowing problems.
  • Nutrition to help patients manage weight loss and maintain strength.
  • Clinical trials on the local, national, and international level.

The center collaborates with its counterparts across the country to stay at the forefront of treatment and research.

“We’re all there for them, and we’re doing what we can to make the treatment cohesive,” Dr. Suski said. “We’re all on the same page.”