Type I spinal muscular atrophy: Werdnig-Hoffmann disease

Background. Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord. SMA type I, the most severe form (Werdnig-Hoffmann disease) can be detected in utero or during the fi rst months of life. Death typically occurs within the fi rst 2 years of life. Case report. A 6-month-old female was admitted to the emergency room for severe respiratory distress. She had muscular hypotonia, intercostal muscle weakness and tongue fasciculations. Electromyography was compatible with motor polyneuropathy with axonal and myelin damage. Molecular analysis of SMN-1 gene reported homozygous for deletion of exons 7 and 8 of SMN-1 gene. Conclusions. It is imperative to recognize and diagnose this entity in order to provide genetic counseling to the family as well as to offer support and advice in the care of the patient.