Abstract
Introduction: Spinal muscular atrophy (SMA) is a disease inherited as an autosomal recessive trait, the incidence in Poland is estimated at 1: 9319 births. The two genes associated with SMA are SMN1 (survival motor neuron 1gene) and SMN2 About 95-98% of individuals with SMA are homozygous for the absence of exons 7 and 8 of SMN1 and about 2-5% are compound heterozygotes for absence of exons 7 and 8 of SMN1 and a point mutation in SMN1.
The aim of this study was to analyze the clinical picture and results of additional studies of patients with SMA.
Material and methods: In the years 2004-2009 in 30 children aged from 6 weeks to 17 years (M:F=16:14) was diagnosed with spinal muscular atrophy (SMA1 N=12, 40%; SMA2 N=8, 267%; SMA3 N=10, 333%)In the siblings of three children SMA was confirmed.
Results: Clinical data, in respect to different SMA types, were analyzed EMG study was abnormal in 27 patients (90%), in three children normal results were seen Nerve conduction study showed reduction of response amplitude in 18 patients (60%) and slowing of the conduction velocity in 7 children (233%) All patients underwent molecular study confirming a telomeric deletion of exon 7 in the SMN1 gene.
Conclusions: Based on the presented patients, the most important in the diagnosis of SMA is the clinical presentation and molecular study Given the clinical symptoms in three patients, despite of normal EMG studies, were performed genetic tests obtaining molecular confirmation of suspected SMA.
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Paprocka, J., Jamroz, E. & Gawryluk, J. 682 Spinal Muscular Atrophy in Children. Pediatr Res 68 (Suppl 1), 347 (2010). https://doi.org/10.1203/00006450-201011001-00682
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DOI: https://doi.org/10.1203/00006450-201011001-00682