Mohammad Juffrie
Department of Pediatric Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central Java

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Spinal muscular atrophy with severe scoliosis: a case report Dikahayu Alifia Anugrah; Sunartini Sunartini; Mohammad Juffrie
Paediatrica Indonesiana Vol 63 No 4 (2023): July 2023
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi63.4.2023.315-20

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement. This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1