Huntington’s disease, a disease with no cure and has affected nearly 30,000 people in the U.S. This disease is one of the rare diseases which is inherited through genes. According to the National Institute of Neurological Disorders and Stroke, this disease causes brain cells, called neurons, to die in various areas of the brain, including those that help to control voluntary (intentional) movement. This disease results in an impact on the individual’s movement, thinking, and psychiatric disorders.
Symptoms
Although only 30,000 have been affected out of millions, there are over 200,000 more who are at the risk of developing the condition. There are over three categories of symptoms and disorders which are included in this section.
Movement Disorders
Involuntary jerking or writhing movements also called chorea, slow or unusual eye movement, disability in walking, damaged balance and posture, slurred speech, and difficulty with swallowing.
Cognitive Disorders
According to the Mayo Clinic, there are a number of cognitive disorders caused by Huntington’s disease such as:-
Difficulty organizing thoughts and harder to focus on specific tasks, the individual may have frequent outbursts since there is less impulse control, difficulty in learning new information, and a struggle in processing thoughts.
Psychiatric Disorders
One of the most common psychiatric symptoms is depression. But there are other signs and symptoms such as:-
Social withdrawal or being an extrovert, Insomnia, fatigue, and loss of available energy, and has negative thoughts bombardment in which an individual frequently has thoughts of death.
Other symptoms are that as the disease progresses, individuals are prone to losing weight.
Image credits: Mayo Foundation
Causes
As this disease is inherited, a single defect in one of the parent’s genes, there is a 50-50 chance of the newborn baby being affected by Huntington’s disease. This is called an Autosomal dominant inheritance pattern. So, the person needs only one copy of a defective gene to develop Huntington’s disease. There is a mutation called Huntingtin which causes Huntington’s disease. The defect that is in our genes causes the building blocks(cytosine, adenine, guanine, or also called CAG) to repeat too many times. (refer to the image above)
The age of getting this disease
The typical age of getting diagnosed with this disorder and disease is when the individual is in his/her 30’s. But it is also possible to be diagnosed when a person is in his/her 20’s.
Treatment
Currently, there is no cure but there are many kinds of research and geneticists who are working on it. But there are treatments supported by the National Institute of Health in which there is the use of antipsychotic drugs. These drugs may ease chorea, help to control hallucinations, delusions, and violent outbursts. Please take these drugs when prescribed by a board-certified doctor.
Word Bank
Mutation: A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.
Sources
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