Name__Makayla Walley_______Disorder_Huntingtons Disease___ 2023

Genetic Disorder Research Project - Answer all questions

1. How is the disorder passed from parent to offspring?

Inheritance. This condition is inherited in an autosomal dominant pattern , which means one
copy of the altered gene in each cell is sufficient to cause the disorder. An affected person
usually inherits the altered gene from one affected parent.

2. Does this disease occur on a particular chromosome(s)? If so, what chromosome(s)?

HD is caused by mutation in a gene located on chromosome 4.

3. When does the disorder manifest (birth…childhood…adulthood)?

Huntington's disease symptoms can develop at any time, but they often first appear when
people are in their 30s or 40s. If the condition develops before age 20, it's called juvenile
Huntington's disease.

4. How does the disorder affect the individual who has it? (symptoms)
The hallmark symptom of Huntington's disease is uncontrolled movement of the arms, legs,
head, face and upper body. Huntington's disease also causes a decline in thinking and
reasoning skills, including memory, concentration, judgment, and ability to plan and organize.

5. What is the life expectancy of an individual with this disease?

The time from the first symptoms to death is often about 10 to 30 years.

6. How often does this disorder occur?

HD affects both men and women throughout the world, occurring at a rate of about 1 in every
10,000 people.

7. Does the disorder affect any one population or race more than others? If so, explain.
Frequency. 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.

8. Is there a doctor or scientist who is associated with the disease?

Who discovered it? or Who has conducted research about this disease?
George Huntington was an American physician from Long Island, New York who contributed
the clinical description of the disease that bears his name — Huntington's disease.

9. What are the treatments for the disorder?

No treatments can alter the course of Huntington's disease. But medications can lessen some
symptoms of movement and psychiatric disorders.

10. List 3 unknown/interesting facts about this disease.

● A defective HTT gene causes Huntinton’s disease.
● More than 30,000 Americans have Huntington’s disease.
● Juvenile Huntington disease can affect people under age 20.