Huntington's Disease

An inherited brain disease named after George Huntington.

Huntington's Disease affects the part of the brain that controls the thinking, emotion, and movement of the person that has it. This part of the brain is the Basal Ganglia.
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Symptoms of HD:

Early:

  • uncontrollable muscle movements
  • stumbling
  • clumsiness
  • reduced concentration
  • reduced short term memory
  • depression
  • mood changes
Later:

  • difficulty walking
  • reduced ability to sit or stand
  • involuntary movements
  • speech and swallowing problems
  • weight loss
  • mood swings
  • depression
  • stubbornness
  • frustration

HD affects a DNA segment known as CAG trinucleotide. In a normal person, the trinucleotide repeats only about 10-35 times, but with HD it can repeat about 30-120 times

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A child with a parent that has HD has a 50% chance of getting HD. HD is located on the 4th chromosome which makes it not sex-linked because its not on the sex chromosome.

Blood tests can tell you if you inherited the disease along with genetic counseling helping you through the process.

There is no cure for Huntington's Disease, but medicines can manage some symptoms.

Although there isn't a cure for HD, scientists are finding a way through gene therapy to hopefully cure patients with HD. Gene therapy is inserting genes into cells or tissues to have functional alleles instead of mutant ones to treat a disease, such as Huntington's disease. They've tested mice with gene therapy and it worked so they are trying to figure out a way to get it to work with humans.

Most people that get HD are middle aged. 80% are people aged 20-55 (mostly 40-50). People that are under 20 and have the symptoms are known to have juvenile HD, and that accounts for about 10% of all people with HD. The other 10% are people over 55 that are just then getting symptoms.