| Abstract | Amiotrofična lateralna skleroza neurološka je bolest koja zahvaća gornje i donje motorne neurone. Incidencija bolesti je da obolijeva 1-2 osobe na 100 000. Većina oboljelih umre unutar 3 do 5 godina od postavljanja dijagnoze. Točna patogeneza bolesti i dalje se ne zna. Postoji par teorija od kojih je jedna da prisutnost slobodnih radikala zbog mutacije gena koji kodira bakar/cink superoksid-dismutazu uzrokuje propadanje živčanih stanica. U ranom stadiju bolesti javlja se slabost u mišićima, trzanje i grčenje. Progresijom bolesti dolazi do poteškoća u hodu, govoru, gutanju i disanju. Zbog toga što se točna etiologija bolesti ne zna, jedini dopušten lijek je riluzol, antiglutamat, koji može produžiti život pacijenta. Ostala terapija koja se daje je samo simptomatska. Sama dijagnoza postavlja se dosta kasno, čak i do 14 mjeseci od pojave prvih simptoma jer specifičan biomarker za postavljanje dijagnoze ne postoji, već se ona temelji samo na prepoznavanju simptoma. Dijagnostičke pretrage su neurološki pregled, elektrofiziološka ispitivanja, laboratorijski testovi. U ovoj bolesti, jako je bitna komunikacija sa pacijentom, multidisciplinarni pristup te palijativna skrb. U liječenje pacijenta s ALS-om uključeni su liječnik opće medicine, fizioterapeut, medicinska sestra, neurolog, logoped, psiholog, socijalni radnik, pulmolog, gastroenterolog, fizijatar i stomatolog. Palijativna skrb je cjelovita briga za osobu koja više ne reagira na ostale oblike liječenja te je ušla u terminalnu fazu bolesti. Cilj joj je osigurati bolju kvalitetu pacijentu te pomoći obitelji bolesnika. Cilj ovog rada je prikazati kvalitetu života oboljelih od ALS-a kroz odabrani slučaj. |
| Abstract (english) | Amyotrophic lateral sclerosis is a neurological disease that affects the upper and lower motor neurons. The incidence of the disease is that it affects 1-2 people per 100,000. Most of the affected people die within 3 to 5 years of diagnosis. The exact pathogenesis of the disease is still unknown. There are a couple of theories, one of which is that a mutation in a gene encoding copper / zinc superoxide dismutase releases free radicals which cause nerve cell breakdown. In the early stages of the disease muscle weakness, twitching and cramping occur. As the disease progresses, there are difficulties in walking, speaking, swallowing and breathing. Because the exact etiology of the disease is not known, the only drug allowed is riluzole, an antiglutamate, which can prolong a patient’s life. Other therapy given is only symptomatic. The diagnosis itself is made quite late, even up to 14 months from the onset of the first symptoms, because there is no specific biomarker for making the diagnosis, but it is based only on the recognition of symptoms. Diagnostic tests are neurological examination, electrophysiological tests and laboratory tests. In this disease, communication with the patient, multidisciplinary approach and palliative care are very important. The treatment of a patient with ALS includes a general practitioner, physiotherapist, nurse, neurologist, speech therapist, psychologist, social worker, pulmonologist, gastroenterologist, physiatrist and dentist. Palliative care is a holistic care for a person who no longer responds to other forms of treatment and has entered the terminal phase of the disease. Its goal is to ensure better quality for the patient and to help the patient's family. The aim of this paper is to show the quality of life of ALS patients through a selected case. |
