Sažetak sa skupa
https://doi.org/10.26800/LV-144-supl2-CR42
Nusinersen treatment in SMA type III: treating an adult patient
David Preložiček
; School of Medicine University of Zagreb
Dora Meštrović
; School of Medicine University of Zagreb
Lucija Mihaljević
; School of Medicine University of Zagreb
Martina Petrinović
; School of Medicine University of Zagreb
Ervina Bilić
; Department of neurology, University Hospital Center Zagreb; School of Medicine University of Zagreb
Sažetak
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.
Ključne riječi
nusinersen, Revised Hammersmith Scale, spinal muscular atrophy
Hrčak ID:
278970
URI
Datum izdavanja:
27.4.2022.
Posjeta: 283 *