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Huntington's Disease

Huntington's disease is an inherited, progressing, and neurodegenerative disease which leads to death of brain cells. On average 50% of descendants of an affected parent will suffer from Huntington's disease during their lifes. Men and women are affected equally. Prevalence rate is 5-10 of 100,000 people.

The disease is caused by a mutation of the so-called Huntingtin gene which is located on the short arm of chromosome 4. This mutation causes a pathologic repitition of the amino acid triplet 'cytosine-adenine-guanine' (CAG). The defect gene leds to the production of the mutant Huntingtin protein which leads to the destruction of nerve cells. Basal ganglia along with the insula region are affected.

 

Huntington's disease is linked to progressing physical, mental and psychological deficits. Motoric skill symptoms are dominated by motoric restlessness combined with sudden movements of limbs in particular, involuntary grimace, and having difficulties in talking and swallowing. Psychological symptoms encompasses depression, irritability, and change in personality. At a late stage of the disease, intellectual capacities are degraded up to dementia.

A definite diagnosis is only possible by a genetic test. In case more than 35 CAG repititions are diagnosed, an outbreak of Huntington's disease is very likely. The more CAG tripletts are present, the earlier first symptoms show and the faster the disease progresses. The juvenile form appears at 60 CAG tripletts.

 

Despite intensive research there are neither preventive measures nor causal therapy at the moment which could heal or stop Huntington's disease. For symptomatic treatment of movement disorder causing severe impairment of the daily life of patients Tetrabenazine (Tetmodis®) oder Tiapride (Delpral®) is given. In case of psychotic symptoms atypical neuroleptics Olanzapine (Zyprexa®) is given. Symptoms of depression are treated by antidepressants from the group of selective serotonin reuptake inhibitors (SSRIs). Self help groups and social services offer information and support in psychosocial aspects.

Huntington's disease is linked to the impairment of recognition of emotions in facial expressions of others. This impairment combined with difficulties in pronounciation in late stages of the disease make communication with relatives especially hard. We are able to offer training of recognition of emotions in facial expressions in the scope of our self help group.

Contact of self-help group

Mag. Dr.rer.nat.

Rottraut Ille

Mobile:+43 (0)699 1954 2196

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