Progress of Spinal muscular atrophy with respiratory distress type 1

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease.It is caused by mutations in the gene immunoglobulin μ-binding protein 2 which resides on chromosome 11q13.3 and encodes the immunoglobulin μ-binding protein 2.This disorder is characterized by degeneration of anterior horn α-motoneurons and manifesting as irreversible diaphragmatic paralysis, respiratory distress associa-ted with progressive symmetrical muscular weakness, distal lower limbs mainly involved, and muscle atrophy between the first 6 weeks and 6 months of life.Overall, SMARD1 is a poor-prognosis disease that artificial ventilation is needed for the whole life. Key words: Spinal muscular atrophy with respiratory distress type 1; Immunoglobulin μ-binding protein 2 gene; Diaphragmatic paralysis; Respiratory failure