Team:EpiphanyNYC/WhatIsHD

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
  • Physical incoordination and involuntary movements

HD is adult-onset, usually affecting people in between their 30s to 50s. 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 populations, including the Japanese, Chinese, African. 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 potential to grow quickly. 200,000 people are at risk of inheriting HD because the child of an affected parent has a 50-50 chance of having a faulty gene that causes HD.

 

 

Is There a Cure for HD?

 

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 theory. However, there exists no treatment to completely cure or slow the development of HD, although there has been ongoing research and experimental therapies for HD such as surgical inquiries.

Thus, our goal is to hopefully employ genetics to find an efficient resolution to HD, hence our name: HD Resolution!

Sources

  1. http://hdsa.org/what-is-hd/
 

HD RESOLUTION

hdresolutionigem@gmail.com | Phone: (347) 709-6167