Very severe spinal muscular atrophy [type 0]: a report of three cases

ABSTRACT

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