| Popis: |
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease which is characterized by the presence of involuntary choreatic movements, cognitive impoverishment and behavioral disorders. The objectives of this research were: analysis of the clinical specifics of people with HD and definition of chronology in the occurrence of milestone disease progression. 56 patients with HD were interviewed by telephone about their age, family history, age at onset of the disease, first symptoms, current symptoms and their beginning. Also, the number of trinucleotide (CAG) repeats was determined by PCR method. In group of 50 alive patients the average age was 54.5 years, age at the beginning of disease 46.7 years, disease duration 7.8 years and latency to diagnosis 2 years, approximately. Family history was positive for 22 patients. Most frequently first symptoms were involuntary movements as isolated symptom (24 patients). In a progression of the disease swallowing difficulty and choking were first problem in everyday life for patients and they occurred 4.5 years after the first symptoms. Talking difficulty, falls, dependence on the assistance of another person during bathing and eating and walking difficulty happened after 4.6, 5.2, 6.2, 7.5 and 7.5 years, respectively. The average number of trinucleotide repeats was 43.8, in range from 40 to 51 repeats. HD in short term leads to significant disability with the emergence of problems with swallowing, speaking and walking, leading thus to complete depending on the physical assistance of another person. |
