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Scoliosis in spinal muscular atrophy: natural history and management
L Merlini1, C Granata, S Bonfiglioli
1Istituto Ortopedico Rizzoli, Bologna, Italy.
Insights
Infantile spinal muscular atrophy (SMA) is a severe genetic disease. While the severe form is fatal, intermediate and mild SMA patients experience functional decline, including loss of ambulation and severe scoliosis, necessitating interventions.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Infantile spinal muscular atrophy (SMA) is a progressive neuromuscular disorder.
- Natural history studies are crucial for understanding disease progression and guiding treatment.
Purpose of the Study:
- To describe the natural history of infantile spinal muscular atrophy (SMA) in 109 patients.
- To evaluate functional outcomes and the impact of interventions for scoliosis.
Main Methods:
- Retrospective case series analysis of 109 patients with infantile SMA.
- Assessment of functional ability, ventilatory function, and orthopedic outcomes.
Main Results:
- All 18 patients with severe SMA died; 5 of 52 with intermediate SMA died.
- Patients with mild SMA experienced loss of ambulation and severe scoliosis.
- Surgical correction of scoliosis in mild SMA patients improved spinal stability and function without respiratory compromise.
Conclusions:
- Infantile SMA prognosis varies significantly by disease severity.
- Scoliosis management in SMA requires careful consideration of functional and respiratory status.
- Interventions can improve outcomes for patients with mild SMA and scoliosis.
Abstract:
This is a report on the natural history of 109 patients with infantile spinal muscular atrophy (SMA). All 18 children with the severe form died, as did five of the 52 with the intermediate form. Functional ability was more or less stable in the 47 living patients with the intermediate form, but 16 of the 39 with mild SMA lost the ability to walk. Ventilatory function was severely impaired in those with intermediate SMA: orthopaedic treatment for scoliosis in this group did not prevent the curves from worsening with age. Scoliosis was also severe in patients with mild SMA who had stopped walking: surgical treatment in six cases resulted in stable correction of the spine, with functional and cosmetic improvement and without impairment of respiratory function.