Huntington Disease

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by MrReGlog
Last updated 8 years ago

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Huntington Disease

HUNTINGTON DISEASE

Quality of Life with Huntington Real Life Situations

What is Huntington Disease? Huntington is an inherited autosomal dominant disease (not sex-linked) which effects the nervous system. It is found on the fourth autosomal chromosome pair in DNA. People with Huntington Disease have one or more alleles in the pair (HD gene), which is not working properly and that; allele dominates over the other ‘normal’ one. So if a child has a parent who has HD, they have a 50%-100% chance of having the disease themselves, depending on if the parent has two dominant alleles or if they have one. x H H x H h h Hh Hh h Hh hh h Hh Hh h Hh hh If both parents have huntingtons disease there is a 25% chance the child will not inherit the disease x H h H Hh Hh h Hh hh

Treatment for Huntingtons There is no current cure for Huntingtons disease but there is treatment available, to reduce the symptoms. Doctors often give out the following medicine to control emotional and physical problems. *Antipsychotics – for hallucinations, delusions, etc.. *Antidepressants – for depression, OCB (obsessive-compulsive behavior), etc. *Tranquilizers – helps with controlling movements. *Mood stabilisers - for bipolar disorder, etc. Along side treatment there are very small lifestyle steps that people with the Huntington Disease need to be aware of. -Since a symptom of Huntington Disease is chocking on food, it is recommended for food to be cut into smaller pieces, or pureed -Dairy products should be avoided, because of build up of mucus. -Speech therapy is recommended to help improve speech slurs and stuttering. -Physical therapy is recommended to help make muscles stronger and flexible and also helps improve balance and stableness.

SYMPTOMS OF HUNTINGTON D * Clumsiness * Jaw Clenching (Bruxism) * Loss of coordination and balance * Speech difficulty * Slurred speech * Swallowing and or eating difficulty * Uncontrolled continual muscular contractions * Walking difficulty, stumbling, falling * Irritability * Lack of energy * Hallucinations * Inappropriate behaviour (meaningless aggression) * Paranoia * Difficulty learning new things

For extra helpful information for people living with Huntington Disease, or for people who have concerns and need help: http://w\ww.kumc.edu/hospital/huntingtons/ http://huntingtonsaustralia.asn.au/ http://www.ahda.com.au/

Testing Testing for HD examines the number of CAG repeats on the gene inherited from both parents. There are many ways to go about testing. Most tests are conducted through taking blood samples from the patient who is at risk, and then further examining the sample. There are two ways to test during pregnancy. There is Preimplantation diagnosis available which involves having IVF treatment. This is where they test the embryo in a lab and check to see if the embryo has the faulty gene after that , tt it is then the parents decision what they do next. The second easier way to test the embryo is through testing called embryonic screening.


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