Genetic Disorder

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Hungtington's diesease is inherited in an autosomaldomminant pattern.Meaning any human who has the gene will evenutally get the disorder.If a parent has the mutation he or she give their children a 50 % chance of having the gene.

Genetic Disorder: Huntington's Disease

Huntington's disease is a disorder that affects the brain.Huntington's causes loss of thinking ability, emotional distress and uncontrolled movemnts.Huntington's is inherited and it essentially causes nerve cells in the brain to waste away.If just one of your parents has the huntington's disease you have a 50% chance of getting it.People affected are born with it don't experience symptoms until they are middle aged.Huntington's most commonly occurs aged 30-40s this is called adult- onset Huntington's.Idividuals with this usally live 15-20 years after experiencing their first symptoms.

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Facts and History

What Is Huntington's Disease ?

Symptoms?

Pedigree Chart For Huntington'sIn order for someone to be affected wiht huntington's disease at least one of the parents need to be a carrier of the dominant allele.It is a neurodegenerative disorder that is commonly referred to as the silent killer as phenotypic symptoms are not present in the affected individual until later years in life.The individual needs to have one copy of the allele( Hh and HH) whereas hh gentypically marks an unaffected indivudal.

No treatments can alter the course of huntington's disease.Medications can lessen some symptoms of movement and psychiatric disorders.Mutiple interventions can help a person adapt to changes in his or her abilites for a certain amount of time.Some medication used is to help with movement disroders are Tetrabenazine and antipsychotic drugs.Medication that is used to help with the psychiatric part of huntington's diease included antidepressants.The types of therapy that is used to help those with huntington's are psychotherapy , speech therapy ,physical and lastly occupational thearpy.

Treatment

Mode of inhertience

Huntington's disease consists of two alleles for the huntington gene.A big H which is dominant and a little h which is the recessive.Huntingtions disease is dominant which is represented by a big H while the normal gene is represented by a small h.Any child who has the big H will inherite hungtions gene but a child with the geno tyoe "HH will not proably survie birth and lastly a child with the geno type "hh" will never inhertite the gene

Karytope Defective gene on cromosome 4 - Of the 23 human chromosomes that carry a person's entire genetic code.It causes a part of DNA called CAG to repeat many times more than it is supposed to.CAG is to repate 10 to 35 but somone with the Huntington's gene is repeated 36 to 120 times

Symptoms come in a broad spectrum depending on each case. Symptoms also depend on the preggsion.Starting symptoms include weight loss and involuntary movemnts like jerking, abnormal eye movemnts , posture/blance , muscle dystonia.Usually as it progresses it begins to impare swallowing and producing speech.Cognitive symtoms iclude lack of concentrating and lack of impulse control.At the end stages of somones life with hutingtons most loved ones belive that full time care is needed by an inhome nurse or at a care home because they have lost their skills to performe basic care for themslves.There are also psychiatric disorders that come with huntington's like depression , OCD and bipolar disorder.Lastly those who suffer from this disease loose their ability to walk and use moter skills.

- Was named after George Huntington who first described it in 1872 - It is considered one of the most common herditary bran disorders -already affecting 30,000, more than 200,000 north americans are at risk of inheriting the disease -in 1993 a simple gentic test allowed the identification of the gene to confirm diagnosis-Huntingtin is found in many tissues in the body but the highest levels are in the brain - MRI or CT brain imagin tests are used.- most children whos parents suffer from the disease chosse to have a predictive genetic test