Nusinersen treatment in SMA type III: treating an adult patient

Autor:	Preložiček, David, Meštrović, Dora, Mihaljević, Lucija, Petrinović, Martina, Bilić, Ervina
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	nusinersen Revised Hammersmith Scale spinal muscular atrophy
Zdroj:	Liječnički vjesnik Volume 144 Issue Supp 2
ISSN:	1849-2177 0024-3477
Popis:	INTRODUCTION/OBJECTIVES: Spinal muscular atrophy (SMA) is a rare disorder which presents as a loss of (spinal) lower motor neuron with consequential muscular atrophy. It is caused by absence of SMN1 gene on chromosome 5 due to exon 7, or additionally exon 8, deletion. Presence or absence of SMN2 and NAIP genes determine the severity and time of onset of the disease. SMA is divided in 5 types ranging from 0 to 4 with 0 being the most severe with the earliest time of onset and 4 being the mildest with the latest time of onset.
Databáze:	OpenAIRE
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