Abstract
BackgroundProgressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal muscular atrophy type II and IIIa.MethodsFor the purposes of a descriptive clinical study, we observed 126 patients, 99 with SMA II and 27 with SMA IIIa and the data of scoliosis, pelvic obliquity and relative age-dependent inspiratory vital capacity were evaluated.ResultsScoliosis and pelvic obliquity were regularly observed already in children under 4 years old in the group with SMA II. The severity and progression of both conditions were much more pronounced in the SMA II group than in the IIIa group. There was already a distinct reduction in relative vital capacity in the group of 4- to 6-year-olds with SMA II.ConclusionsThe differences between the two SMA types II and IIIa described in this study should be taken into consideration when developing new treatments and in management of scoliosis in the childhood years of these patients.
Highlights
Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with spinal muscular atrophy (SMA) type II and SMA type III once they have lost the ability to walk
Of the S-shaped scoliosis, the main curve in SMA II patients was thoracic in 6 cases, lumbar in 4 and thoracolumbar in 2
This study documents that scoliosis in patients with SMA II and SMA IIIa develops early and progresses rapidly and that their vital capacity deteriorates during childhood
Summary
Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal muscular atrophy type II and IIIa. Proximal spinal muscular atrophy (SMA) is a hereditary autosomal recessive disease with muscular hypotonia, hyporeflexia, symmetrical weakness and atrophy of the skeletal muscles due to chronically degenerative alterations in the anterior horn cells. Proximal spinal muscular atrophy (SMA) is a hereditary autosomal recessive disease with muscular hypotonia, hyporeflexia, symmetrical weakness and atrophy of the skeletal muscles due to chronically degenerative alterations in the anterior horn cells It is caused by a deletion or mutation in the telomeric survival motor neuron gene (telSMN-gene, SMN1) on chromosome 5q [1,2]. Children with type II are unable to walk but they are or were able to sit unsupported. Children with type IIIa and IIIb are or were able to
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