Abstrakt
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease caused by gene mutation on a short arm of the 4th chromosome, with incidence of about 1 10-15,000. The mutation consists in expansion of CAG triplet with critical limit of about 40 repeats.
HD is manifested by combination of motor symptoms (especially, the choreatic dyskinesias are characteristic), neuropsychiatric disorders (depression, anxiety, irritability or apathy, obsession and compulsion, psychotic symptoms) and progressing dementia. Typically, HD begins between 35th and 50th year of age, however, juvenile and late forms also exist.
The progression of HD cannot be substantially therapeutically influenced, but some of the symptoms may be at least temporarily effectivelly confronted using pharmacological and psychosocial interventions. However, the course of HD leads unevitably to the total dependency on the neighbourhood and patients die in uncontrollable marasmus.
The diagnosis of HD is confirmed by a genetic test. In persons at risk (the offspring of the ill or positively tested person) who want to know their genetic state, presymptomatic DNA testing is perfiormed using a specific protocol.
Prenatal testing is also possible.