First Choice Neurology

What is Huntington’s Disease?

Huntington’s disease (HD) is a brain disorder that is passed down in families from generation to generation. It is caused by an error in the DNA instructions that build our body and keep it running. DNA is made up of thousands of genes, and people with HD have a small defect in a gene called huntingtin. Over time, this error causes damage to the brain and causes symptoms of Huntington’s disease.

Huntington’s disease causes a person’s physical, mental and emotional abilities to deteriorate, usually during their prime at work, and there is currently no cure. Most people start developing symptoms in adulthood, between the ages of 30 and 50, but HD can also occur in children and young adults. Huntington’s disease is known as a family disease because each child of a parent with HD has a 50/50 chance of inheriting the defective gene. Today there are approximately 41,000 symptomatic Americans and more than 200,000 at risk of inheriting the disease. It is usually diagnosed by a neurologist using genetic testing, medical history, brain imaging, and neurological and laboratory tests.

What is Huntington's Disease

Huntington’s Disease Symptoms

Symptoms of Huntington’s disease can vary greatly from person to person but typically include:

  • Personality changes, mood swings and depression
  • Forgetfulness and impaired judgment
  • Unsteady gait and involuntary movements (chorea)
  • Slurred speech, difficulty swallowing and significant weight loss.

Most people with Huntington’s disease have problems with thinking, behavior and movement. Symptoms typically worsen over the course of 10 to 25 years, affecting the ability to reason, walk, and speak. The person with HD or their friends and family may notice difficulty planning, remembering, and concentrating on the task. They can develop mood swings such as depression, anxiety, irritability, and anger. Most people with Huntington’s disease become “fidgety” and develop facial and limb movements known as chorea, which they cannot control.

Uncontrolled movement (chorea) can cause a person with HD to lose a lot of weight without intending to and they may have trouble walking, balancing, and moving safely. You will eventually lose the ability to work, drive, and do household chores, and may be eligible for disability benefits. Over time, the person develops difficulty speaking and swallowing, and their movements become slow and stiff. People with advanced HD require full-time care to help them with daily activities and eventually succumb to pneumonia, heart failure, or other complications. The symptoms of Huntington’s disease are sometimes described as ALS, Parkinson’s, and Alzheimer’s all at the same time.

HD Research

The focus of Huntington’s disease research is understanding the toxicity of the mutant huntingtin protein to brain cells and developing potential drugs to counteract HD. Researchers hope to understand how the defective gene various structures in the brain and the body’s chemistry and metabolism. Some of the clinical symptoms of neurodegenerative diseases can be caused by the ultimate malfunctioning of neuronal circuits. Scientists are using cutting-edge methods such as optogenetics to study such circuit defects in Huntington’s disease.

Huntington’s Disease Treatment

There is no treatment that can stop or reverse the progression of Huntington’s disease. Tetrabenazine and deuterabenazine can treat chorea associated with Huntington’s. Antipsychotic medications can relieve chorea and help control hallucinations, delusions, and violent outbursts. Medications may be prescribed to treat depression and anxiety. Huntington’s disease causes disability that gets worse over time.

If you or a loved one is suffering from Huntington’scontact a neurologist at First Choice Neurology. We have more than 41 facilities in 6 Florida counties and services at 35 major hospitals.

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