Epidemiology and quality of life issues of hereditary spastic paraplegia in Estonia and implemention of genetic analysis in everyday neurologic practice
Kuupäev
2010-05-19T10:03:45Z
Autorid
Ajakirja pealkiri
Ajakirja ISSN
Köite pealkiri
Kirjastaja
Abstrakt
Hereditaarne ehk pärilik spastiline parapleegia (HSP) on rühm harva esinevaid neurodegeneratiivseid haigusi, millele on iseloomulik jalgade süvenev spastilisus ja nõrkus. Suhteliselt vähe on süsteemselt kirjeldatud haigusega kaasuvaid kliinilisi probleeme – kõnnaku- ning põiehäireid, neuropsühholoogiliste häirete esinemist. Uurimata on HSP-ga inimeste elukvaliteet. Eestis pole varem tehtud ühtegi sellele haigusele orienteeritud uuringut. Käesoleva uuringu eesmärkideks oli määrata HSP levimust Eestis, selgitada välja Eestis esinevad SPAST geeni mutatsioonid, kirjeldada haigetel esinevaid kliinilisi probleeme ning uurida haiguse mõju elukvaliteedile. Tulemustena leiti, et HSP levimus Eestis 100,000 inimese kohta on 4,4 juhtu. Uurides sagedaseimat haiguse tekkimisega seotud geeni (SPAST), leiti kokku 12 mutatsiooni, millest 10 olid varem kirjeldamata. Uuring süstematiseeris haiguse korral esinevaid põiehäirete variante. Kirjeldati jalgade lihasspastilisuse mõju kõnnikiirusele ning selle seost liigeste liikuvusulatusega. Selgus, et HSP-ga võivad kaasuda mitmed neuropsühholoogilised ilmingud, nagu depressioon ja mäluhäired. Esmakordselt tõestati teaduspõhiselt, et haigus alandab inimeste elukvaliteeti. Kõikide uuringu tulemuste suurim praktiline väljund on HSP-ga inimestel esineda võivate probleemide teadlik ja õigeaegne avastamine, mis edasise adekvaatse menetluse tulemusena omakorda tõstab meditsiinilise abi kvaliteeti.
Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorders. The common feature of the disorder is progressive spasticity and increased reflexes in the legs. Many aspects of this disorder are investigated poorly if at all. It was never studied systematically in Estonia. With this study we aimed to find out several facts, related with HSP like the disease’s prevalence, the most common genetic abnormality, clinical description and quality of life of persons with HSP. The study showed that the prevalence of HSP in Estonia is 4.4 per 100,000 population. The most frequent genetic cause of the disease is mutations in the gene called SPAST – this study revealed twelve changes, of which ten were new. We have provided the first systematic disease-oriented description of bladder dysfunction in HSP. The analysis of gait disturbances focused mainly on the evaluation of spasticity’s influence, taking into account changes in active and passive range of motion in legs’ joints. This study demonstrated that there are several neuropsychological manifestations possible, including depression and cognitive decline. It is now evidentially proved, that HSP reduces quality of life. The most practical outcomes of this study are related to everyday clinical practice. Being aware of all possible manifestations of the disorder provides the most adequate attention to it and improves the quality of medical help.
Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorders. The common feature of the disorder is progressive spasticity and increased reflexes in the legs. Many aspects of this disorder are investigated poorly if at all. It was never studied systematically in Estonia. With this study we aimed to find out several facts, related with HSP like the disease’s prevalence, the most common genetic abnormality, clinical description and quality of life of persons with HSP. The study showed that the prevalence of HSP in Estonia is 4.4 per 100,000 population. The most frequent genetic cause of the disease is mutations in the gene called SPAST – this study revealed twelve changes, of which ten were new. We have provided the first systematic disease-oriented description of bladder dysfunction in HSP. The analysis of gait disturbances focused mainly on the evaluation of spasticity’s influence, taking into account changes in active and passive range of motion in legs’ joints. This study demonstrated that there are several neuropsychological manifestations possible, including depression and cognitive decline. It is now evidentially proved, that HSP reduces quality of life. The most practical outcomes of this study are related to everyday clinical practice. Being aware of all possible manifestations of the disorder provides the most adequate attention to it and improves the quality of medical help.
Kirjeldus
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