JMCR: Clinical Minute

Ren, W., Jin, B., Hu, Y. et al. Spinal muscular atrophy type 2 with severe kyphoscoliosis: a case report. J Med Case Reports (2026)
Like

Share this post

Choose a social network to share with, or copy the URL to share elsewhere

This is a representation of how your post may appear on social media. The actual post will vary between social networks

JMCR Article Highlights

  • Spinal muscular atrophy (SMA) type 2 commonly leads to progressive scoliosis, impaired sitting balance, restrictive respiratory dysfunction, and reduced quality of life.
  • A 16-year-old boy with delayed diagnosis of SMA type 2 presented with severe thoracolumbar kyphoscoliosis and an 83° Cobb angle after years without disease-modifying therapy.
  • Genetic testing confirmed homozygous deletion of SMN1 exon 7, with three copies of SMN2 and one copy of NAIP, establishing the diagnosis.
  • The patient underwent posterior spinal fusion from T1 to S2 using pedicle screw instrumentation and S2 alar-iliac screw fixation, without the need for spinal osteotomy.
  • Surgery corrected the spinal deformity from 83° to 42°, restored independent upright sitting, and produced sustained improvement at one-year follow-up without implant failure or major complications.
  • The case demonstrates that definitive spinal reconstruction can substantially improve function and quality of life, even in adolescents with longstanding untreated SMA type 2.
  • The report underscores the importance of early genetic diagnosis, newborn screening,

Please sign in or register for FREE

If you are a registered user on Research Communities by Springer Nature, please sign in