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)
Published in Neuroscience and Biomedical Research
Like
Be the first to like this
Explore the Research
Spinal muscular atrophy type 2 with severe kyphoscoliosis: a case report
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,
Follow the Topic
Biomedical Research
Life Sciences > Health Sciences > Biomedical Research
Neuroscience
Life Sciences > Biological Sciences > Neuroscience
-
Journal of Medical Case Reports
This journal will consider any original case report that expands the field of general medical knowledge, and original research relating to case reports.
Please sign in or register for FREE
If you are a registered user on Research Communities by Springer Nature, please sign in