Very Severe Spinal Muscular Atrophy (Type 0): A Report of Three Cases
نویسندگان
1 Pediatrician, Faculty of Medicine, Tabriz University of Medical Sciences, Children Hospital, Tabriz, Iran
2 Associate professor of Molecular-Medical Genetics, Faculty of Natural Sciences. Tabriz University, Tabriz, Iran
3 Professor of Pediatric Neurology, Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
doi
10.22037/ijcn.v4i2.1871چکیده
ObjectiveWe describe three patients with very severe Spinal Muscular Atrophy (SMA) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. In all infants, electrodiagnostic studies were compatible with a neurogenic pattern. In genetic studies, all cases had homozygous deletions of exons 7 and 8 of Survival Motor Neuron (SMN) and exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP) gene. SMA should be considered in the differential diagnosis of reduced fetal movement and respiratory insufficiency at birth.
