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Huntington's Disease

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Jesse Damm

on 10 June 2015

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Transcript of Huntington's Disease

Huntington's Disease
Essentially everyone has the HD causing gene, however, only those that inherit the expansion of the HD gene will actually get the disease
The disease is inherited through an autosomal dominant pattern in the genes which means that every child of a parent that HD has 50/50 chance of inheriting the gene
How Someone Gets HD
The most common psychiatric disorder is depression--not because of receiving diagnosis, but because of the injury to the brain and the changes in the function of the brain
Common psychiatric disorders:
Obsessive Compulsive Disorder
Mania (inflated self esteem or over activity)
Bipolar Disorder
Psychiatric Disorders
Cognitive Disorders
People who have HD can have a lack of awareness of their own abilities and behaviors
They can have difficulty focusing on tasks, organizing, prioritizing, or learning new information
They can experience slowness in "finding" words or processing thoughts
Work Cited
Symptoms of HD
HD is usually described as having ALS,
Parkinson's, and Alzheimer's all at once
The symptoms can appear at the age of
2, or even 80, but they normally start
showing between the ages of 30-50
The most common symptoms are the
uncontrollable movements of the upper
body, head, legs, face, and arms
HD also leads to a decline in reasoning
and thinking skills which includes
concentration, memory, ability to plan
and organize, and judgement
HD is a genetic disorder that is fatal and causes a progressive breakdown of nerve cells in the brain
It has no cure and throughout the years breaks down a person's mental and physical abilities, eventually affecting their ability to walk, reason, and speak
Caused by a single defective gene on chromosome 4--the most important chromosomes of the 23 because it carries the entire genetic code

Chromosome 4 codes for the protein Huntingtin (function is unknown)
The defective Huntingtin protein is what causes HD which leads to the abnormalities and changes of the brain
About HD
Shows difficulty of production of speech and swallowing
Involuntary withering movements or jerking
impaired gait or slow or abnormal eye movements
The movement disorders can be both involuntary movements as well as impairments in voluntary movements
If someone has impairments with voluntary movements rather than involuntary movements, their ability to perform daily activities, remain independent, communicate, and ability to work will be more greatly impacted
Movement Disorders
Huntington's Disease
By: Jesse Damm

Chromosome 4
The defect that causes HD is due to extra repeats of one specific chemical code in one very small section of Chromosome 4
The unaffected Huntingtin gene has 17-20 repetitions, however the defect gene contains about 40 or more repeats
The diagnosis of HD is based on the number of repeats Chromosome 4 contains
Scientists are unable to understand why the extra repetitions are causing the fatal disease
Will HD ever be cured?
There currently is no cure for HD, however extensive research is being done that is showing some hope and promise to soon be able to slow down the disease
Scientists have had successful attempts at reversing the disorder in mice, so there is hope for the future in stopping this deadly disease
Full transcript