Huntington's Disease

Middle name or a fatal disease?

What is this "Huntington's disease"

Huntington's disease is a hereditary disease. America has 30,000 people with symptoms and 200,000 at risk of inheriting the disease.

Symptoms

Symptoms include Personality changes, mood swings, depression, forgetfulness, impaired judgment, unsteady gait (walking), involuntary movements (chorea), slurred speech, difficulty in swallowing, and significant weight loss.

Proteins involved

HTT gene provides information for making Huntingtin, a protein. Mutations in the HTT gene cause Huntington disease. Normal function of this protein is unknown, but plays a role in neurons in the brain.

Mutation

HTT mutations includes DNA segment known as a CAG trinucleotide repeat. The CAG trinucleotide i repeated 10 to 35 times. In the mutation, the trinucleotide is repeated more than 120 times. People with a trinucleotide of 40 or more repeats most likely get Huntington's Disease. The disease is inherited in an autosomal dominant fashion. The probability of each offspring inheriting an affected gene is 50%.

Diagnosis and treatment

Doctors will conduct physical examinations on motor, sensory, psychiatric, and neurological skills. Brain imaging through MRI or CT scans. Genetic counseling and testing can be used to diagnose. There is no way to cure Huntington's disease, but medications can help. Drugs such as interpenetrate and anti psychotic drugs are used to help movement disorders. Antidepressants help with mental disorders. There are issues surrounding confidentiality of testing results. Lots of gene altering tests have happened, some on animal subjects which have brought controversy.

Famous people effected

Sources

"What Is Huntington's Disease?" Huntingtons Desease Society of America What Is HD Comments. N.p., n.d. Web. 20 Mar. 2016.


"Huntington Disease." Genetics Home Reference. N.p., n.d. Web. 20 Mar. 2016.


"Huntington's Disease." Treatments and Drugs. N.p., n.d. Web. 20 Mar. 2016.


"Huntington's Disease." Tests and Diagnosis. N.p., n.d. Web. 20 Mar. 2016.


"Huntington's Disease Society and Culture." News-Medical.net. N.p., 21 Nov. 2009. Web. 20 Mar. 2016.