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
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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,
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Biomedical Research
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Neuroscience
Life Sciences > Biological Sciences > Neuroscience
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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.