Why the study?
Nemaline myopathy is a rare congenital muscle disease, and cases complicated by scoliosis induced by muscle weakness and atrophy are exceedingly uncommon.
Does surgical correction of spinal deformities improve respiratory function and spinal alignment in a pediatric patient with nemaline myopathy complicated by severe scoliosis?
Does surgical correction of spinal deformities improve respiratory function and spinal alignment in a pediatric patient with nemaline myopathy complicated by severe scoliosis?
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This case report demonstrates that surgical correction of severe scoliosis in a patient with NEB-related nemaline myopathy can significantly improve pulmonary function and spinal alignment at 1.5-year follow-up.
Nemaline myopathy (NM) is a rare congenital muscle disease that leads to muscle damage, resulting in muscle weakness and atrophy. Cases of scoliosis induced by muscle weakness and atrophy are exceedingly uncommon. The author clinically treated one patient with NM complicated by scoliosis and analyzed its clinical characteristics through a literature review. The pathogenic genes of this patient originated from compound heterozygous mutations c.12471 + 3A>G from the mother and c.7727G>A from the father, leading to the diagnosis of NM accompanied by scoliosis, which represents a relatively rare clinical phenotype.
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Huang et al. (2024) studied this question.
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