Huntington’s disease (HD)

What is Huntington’s disease?

Huntington’s disease (HD) is a rare, inherited condition of the brain and nervous system. Nerve cells in the brain break down and die, resulting in uncontrolled movements.

HD is also known as Huntington’s chorea. The term “chorea” refers to the unpredictable, quick, jerky movements that happen with this movement disorder.;

Huntington’s disease symptoms

The first Huntington’s disease symptom to appear is typically chorea. These involuntary movements usually affect the hands and face first, followed by the limbs and torso. As the disease progresses, chorea can significantly impact the ability to drive, eat, speak, walk, and perform daily self-care.

All symptoms of HD are progressive, meaning that they get worse over time. Other symptoms include:

  • Difficulty speaking, swallowing, or walking
  • Emotional mood swings or personality changes (irritability, depression, bipolar disorder)
  • Hallucinations
  • Muscle stiffness or rigidity
  • Problems with balance and posture
  • Problems with memory, learning, focus, decision-making, and multitasking 

What causes Huntington’s disease?

Huntington’s disease is caused by a genetic variant of the HTT gene that is passed down through families. Only one parent needs to carry the abnormal gene to pass it down to a child. Each child born of that parent has a 50 percent chance of inheriting the condition.

In very rare cases, some people with HD do not have parents with the condition.

Huntington’s disease diagnosis

The biggest sign that you might have HD is a family history of the condition. To diagnose HD, a neurologist (nerve and brain specialist) will ask questions about your personal and family medical history and perform a thorough physical examination. 

Huntington’s disease treatment

There is no cure for HD, but treatments may lessen symptoms and help manage disease progression.

Penn Medicine’s Movement Disorders Center is a Huntington’s Disease Society of America (HSDA) Center of Excellence. This recognition is given to centers with a collaborative, multidisciplinary approach to providing the best care for people with Huntington’s disease. The experts in our subspecialty Huntington’s disease clinic provide ongoing support during diagnosis, treatment, and major life transitions for individuals with Huntington’s disease and their families.

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