Huntington's Disease

Diagnose, Symptoms & Treatments.

What is Huntington's Disease?

Huntington’s disease is a hereditary condition in which your brain’s nerve cells gradually break down. This affects your physical movements, emotions, and cognitive abilities. There is no cure, but there are ways to cope with this disease and its symptoms.

Huntington’s disease is much more common in people with European ancestry, affecting about three to seven out of every 100,000 people of European descent.

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People that have (had) Huntington's Disease

  • Woody Guthrie
  • Catfish Hunter
  • Frédéric Chopin
  • King Charles II

What are some Symptoms of Huntington's Disease?

  • trouble making decisions
  • difficulty understanding new information
  • poor coordination
  • minor involuntary movements
  • psychosis
  • hallucinations
  • irritability
  • depression
  • uncontrolled twitching movements, called chorea
  • difficulty walking
  • trouble swallowing and speaking
  • confusion
  • memory loss
  • personality changes
  • speech changes
  • decline in cognitive abilities

An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.

Type of Mutation

Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.

Type of Inheritance

Autosomal dominant diseases are usually inherited from the one parent who already has the disease. Rare cases of sporadic genetic disease with neither parent having the disease can also occur.
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How is Huntington's disease diagnosed?

Huntington's disease is diagnosed by a neurologist.

The neurologist tests your:

  • vision
  • hearing
  • sense of touch
  • strength
  • muscle tone
  • balance
  • coordination
  • reflexes

They also do brain functioning and imaging test, psychiatric tests, and genetic testing.

What are some treatments for Huntington's Disease?

Huntington's Disease is non curable, but there are some medications that can ease your physical and psychiatric symptoms. Physical therapy can also help to improve your balance, coordination and flexibility. This training helps to prevent falling and your mobility is improved. Speech therapy is needed if you can't swallow or have problems eating and if you can't speak, you will be taught other ways to communicate.

What is the long-term outlook fot Huntington's Disease

There is no way to stop this disease from progressing. The rate of progression differs for each person and depends on the number of genetic repeats present in your genes. A lower number usually means that the disease will progress more slowly.

Causes of death include:

  • complications from being unable to swallow
  • injuries from falling
  • suicide
  • infections, such as pneumonia
Huntington Disease

References

  • "10 Famous People Who Battled a Genetic Disease - Listosaur | Hungry for Knowledge." Listosaur Hungry for Knowledge. N.p., 05 Sept. 2012. Web. 20 Mar. 2016.


  • Huntingtons Desease Society of America Home Comments. N.p., n.d. Web. 20 Mar. 2016.


  • "Huntington's Disease." - Mayo Clinic. N.p., n.d. Web. 20 Mar. 2016.