Team:New York City/HD

What is Huntington's Disease?

Huntington's disease (HD) is an inherited, autosomal dominant disorder that causes the progressive degeneration of nerve cells in the basal ganglia, a part of the brain that is responsible for coordination and movement. It is caused by a trinucleotide repeat of 40 or more CAG codons in the huntingtin protein. The exact function of the huntingtin protein is unknown but it is critical in nerve cell function. Thus, there is a wide range of symptoms and signs from cognitive, movement, and psychiatric disorders such as:

  • Muscle problems, such as contraction or rigidity
  • Abnormal eye movements
  • Difficulty processing information
  • Fatigue, loss of energy
  • Social withdrawal
  • Mood swings and depression
  • Amnesia and handicapped judgement
  • Impaired speaking abilities and significant weight loss
  • Involuntary movement and loss of physical coordination

HD is adult-onset, usually affecting people in between their 30's to 50's. Symptoms typically worsen over a 10 to 25 year period and greatly impact both mental and physical abilities. Eventually, they pass away due to heart failure or other complications.

Who is affected by Huntington's Disease?

Huntington's disease affects all people regardless of their gender or ethnicity; however, some group is more prone to the disease than others are. It occurs more frequently among people with European origin than among any other population. In the United States, around 30,000 people are diagnosed with Huntington's disease. This is only a small percentage of the US population, but it has the potential to grow quickly. 200,000 people are at risk of inheriting HD, as the child of an affected parent has a 50-50% chance of having a gene that causes the disease.

Is There a Cure?

Currently, the complications of Huntington's disease can be mitigated by medication for movement disorders and psychiatric disorders (such as antidepressants), along with psychotherapy, speech therapy, physical therapy, and occupational therapy. However, there exists no treatment to completely cure or slow the development of HD, although there has been ongoing research and experimental therapies.

Sources:

  1. hdsa.org