Huntingtons Disease Presentation

Huntingtons Disease

-Huntingtons (HD) is a fatal disease resulting from genetically programmed degenerations of nerve cells. The brain becomes a hostage from the mutant proteins effecting motor skills. brain function, and causing emotional disturbances.

SYMPTOMS OF HD

Movement Disorders Cognitive Disorders Psychiatric DisordersInvoluntary jerking or writhing movements (chorea)

Involuntary, sustained contracture of muscles (dystonia)

Muscle Rigidity

Difficulty with physical production of speech

Difficulty planning, organizing and prioritizing tasks

Inability to start a task or conversation

Lack of impulse control

Feelings of sadness or unhappiness

Loss of interest in normal activities

Social withdrawal

Insomnia or excessive sleeping

Juvenile HD

SymptomsLoss of previously learned academic or physical skills

Rapid, significant drop in overall school performance

Transmission

HD appears on the fourth autosomal chromosome.

The disease results from changes to the gene known as (Huntington) located on the short arm of chromsome four

Huntingtons disease is not transmitted via the 23rd pair of chromosomes, which means that men and women can inherit and pass on Huntingtons Disease

There is a 50% chance of passing on the dominant gene that is Huntingtons. If the gene is not passed on, the child has 0% chance of passing on the disease

The HD gene is composed of the DNA sequence CAG (cysotine-adenine-guanine), this sequence may be duplicated many times in many individuals without Huntingtons Disease, however individuals with the Disease may have 40-100 repeated CAG sequences

Treatment

New treatments have been fully tested on animals such as chimps and mice of a new type of therapeutic exploration preventing further mutation of the nerve cells for a number of months.

Animals are treated with these ASOs, synthetic nucleic acids, to bind to and destroy the mutated protein that causes Huntingtons Disease.

This new treatment is still in testing phases, but is a positive new breakthrough that gives new hope for sufferers of HD

Sustaining Life Today

“Huntingtons Symptoms.” ScienceDaily. ScienceDaily, n.d. Web. 13 Aug. 2012. <http://www.science-daily.com/releases/2012/06/0120620132924.html>.

“Www.healthcommunities.com/huntingtons-disease/symptoms.html.” ScienceDaily. ScienceDaily, n.d. Web. 13 Aug. 2012. <http://www.sciencedaily.com/releases/2012/06/0120620132924.html>.

Bibliography

“Huntington’s Disease.” WebMD. WebMD, n.d. Web. 13 Aug. 2012. <http://www.webmd.com/brain/huntingtons-disease-11119>.

“Genetics of Huntington Disease.” Genetics of Huntington’s Disease. Kumc Education, n.d. Web. 13 Aug. 2012. <http://www.kumc.edu/hospital/huntingtons/genetics.html>.

“PM with Mark Colvin.” PM. N.p., n.d. Web. 13 Aug. 2012. <http://www.abc.net.au/pm/content/2010/s2966873.htm>.