Avtor/Urednik		Ahačič, T; Šoster-Križnik, E; Neubauer, D
Naslov		Spinalna mišična atrofija
Prevedeni naslov		Spinal muscular atrophy
Tip		članek
Vir		Slov Pediatr
Vol. in št.		Letnik 13, št. 1
Leto izdaje		2006
Obseg		str. 20-5
Jezik		slo
Abstrakt		Spinal muscular atrophy is the most common neurodegenerative disease in children. Three types, which are differentiated according to age at the onset of the disease, degree of muscle weakness and clinical course, are described in detail in the article. The diagnosis is confirmed by genetic testing. At present there is no effective treatment to delay the progression of the disease, however many drug trials have been undertaken to this end. A case report of a boy with spinal muscular atrophy type 1 is described in the article.
Izvleček		Spinalna mišična atrofija je najpogostejša degenerativna bolezen živčevja pri otrocih. Glede na starost ob nastopu bolezni, stopnjo mišične oslabelosti in klinični potek ločimo tri oblike, ki so v članku podrobneje opisane. Diagnozo potrdimo z genetskim testiranjem. Zaenkrat ni učinkovitega zdravljenja, ki bi upočasnilo napredovanje bolezni, so pa v raziskavah uporabljana številna zdravila s tem namenom. V članku je opisan primer dečka s spinalno mišično atrofijo tipa 1.
Deskriptorji		MUSCULAR ATROPHY, SPINAL FATAL OUTCOME INFANT