Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy.

Objectives: The aim of this study is to provide preliminary molecular data on spinal muscular atrophy in Egyptian patients thus facilitating a rapid and conventional molecular assay for accurate diagnosis of SMA.

Background: Childhood spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders. It is characterized by symmetrical muscle weakness and atrophy of limbs and trunk.