Very severe Spinal Muscular Atrophy (Type 0): A Report of Three Cases

We describe three patients with very severe Spinal Muscular Atrophy (SMA)presented with reduced fetal movement in utero, profound hypotonia, severeweakness and respiratory insufficiency at birth. In all infants, electrodiagnosticstudies were compatible with a neurogenic pattern. In genetic studies, all caseshad homozygous deletions of exons 7 and 8 of Survival Motor Neuron (SMN)and exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP) gene. SMA shouldbe considered in the differential diagnosis of reduced fetal movement andrespiratory insufficiency at birth.