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Neurodegenetive Genetic Disorder
By: Mary Courtney Puryear
Definition of the Disorder
Common Name: Huntington's Disease, Huntington's Chorea
The Part of the body that is mostly affected is the Basal Ganglia
Basal Ganglia: part of the brain that controls movement, emotion, and cognitive ability.
Description of Symptoms
Slight uncontrollable movements
Lack of Emotion
Lack of Focus
Symptoms appear between the ages of 35-55
How is the Disorder inherited/caused?
Huntington's Disease is an autosomal
HD lies on Chromosome 4
It is a dominate gene
How is the disorder diagnosed and treated?
1. A neurologist takes a pedigree or genealogy to find out your family history.
2. The doctor looks for indication of HD with multiple labatory
Some people take CT's , MRI's, or PET's for brain imaging.
There are also genetic test that analyze DNA through blood samples.
There are medications that help control emotion and movement problems associated with HD, but there is no treatment to stop or reverse the disease.
Medications and Therapies
For movement: Tetrabenazine, Antipsychotic drugs
For Psychiatric disorders: Antidepressants,antipsychotic drugs, and mood stabilizing drugs
Psychotherapy: people talk about their problems to cope with them
Physical Therapy: reduce falling
Occupational Therapy: handrails at home, assistive devices for bathing and dressing,
eating and drinking utensils adapted for people with limited fine motor skills
Could it have been prevented and is it curable?
is advised but the
What types of people/groups are likely to have this disorder?
Is it more common is a certain group of people?
Ethnic Group: European
Age Group: Middle Age (35-40)
Gender: not sex-linked
There is a 50% chance of a child with an HD parent
Every person inherits two Huntington's Genes- 1 from each parent.
Affects 3 to 7 in 100,000 people
Probability of inheritance
What medical research is being done?
Imaging (EX: PET)
Animal Models (Lab animals are bred)
Fetal Tissue research (implant fetal tissue in rodents)
Dr. Huntington is the first to discover HD in 1872
Woody Guthrie was diagnosed with Huntington's
Monkeys are used to show the brain activity decay HD causes
Case Study Video
Case Study Video
Anna Tiller | January 20, 2016