Very severe Spinal Muscular Atrophy (type 0): A report of three cases

Abstract

Objective: We 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.