Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM#604320) is a neuromuscular disorder resulting from the degeneration of alpha motor neurons in the anterior horn cells of the spinal cord in which severely impaired helicase and ATPase activities are the primary pathological mechanism of SMARD1 (1). This evidence concerns the gene DNAH8 and Spinal muscular atrophy with respiratory distress type 1.