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Huntington Disease

(Huntington's chorea)
By Nick Caleca
Definition of Huntington's
Huntington's disease is a disease that causes the breakdown of nerve
cells in the brain. Huntington's disease has a broad impact on a person's
functional abilities and usually results in movement, thinking and
psychiatric disorders.
Symptoms
Movement disorder- Symptoms of movement
disorders are involuntary movements.

Psychiatric disorder- Symptoms are


depression, social withdrawal, loss of energy
and feeling sad.

Cognitive disorder- Symptoms are having a


hard time learning, slowness in finding the right
words and difficulty focusing on something.
Cause of Huntington's
Mutations in the HTT gene cause Huntington disease. The HTT gene provides
instructions for making a protein called huntingtin. The defect in the gene results in a
longer huntingtin protein being produced. This abnormal protein is cut into smaller toxic
pieces, which stick together and build up in nerve cells. This will eventually cause the
death of the cell..Huntington's disease is an autosomal dominant disorder, which
means that a person needs only one copy of the defective gene to develop the
disorder.
How is it Inherited
A parent with the gene could pass along the defective copy of the gene or
the healthy copy. Each child in the family would have a 50% chance of
inheriting the gene that causes the genetic disorder. It is dominant so you
only need one gene with the defect to get it.
Treatments
There is not something that can cure Huntington's but there is medication
that can help with some of the symptoms. There are medicines for
movement disorders, and psychiatric disorders. There is also therapy. The
four kinds are speech, occupational, psychotherapy, and physical.
How is it diagnosed
A diagnosis of Huntington's disease is based primarily on your answers to
questions, a general physical exam, a review of your family medical
history, and neurological and psychiatric examinations.
Types of people to get it and how many people have it
Huntington disease affects an estimated 3 to 7 per 100,000 people of
European ancestry. The disorder appears to be less common in some
other populations, including people of Japanese, Chinese, and African
descent.
Applications
I learned that there is different disorders that go with it like cognitive,
psychiatric, and movement. Another thing I learned is that is it most
common with European people.
Citations
Huntington's disease. (2018, May 16). Retrieved from
https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117

Huntington's disease. (2018, May 16). Retrieved from


https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagn
osis-treatment/drc-20356122

Huntington disease - Genetics Home Reference - NIH. (n.d.). Retrieved


from https://ghr.nlm.nih.gov/condition/huntington-disease#statistics

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