Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature

• Main Authors: Lokesh Lingappa, Nikit Shah, Ananth Sagar Motepalli, Farhan Shaik
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2016-01-01
• Series: Annals of Indian Academy of Neurology
• Subjects: Atrophy; autosomal recessive; diaphragmatic spinal muscular atrophy; distal spinal muscular atrophy; muscular atrophy; neuronopathy; neuronopathy severe infantile axonal with respiratory failure; SMARD1; Spinal; Type VI
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=3;spage=395;epage=398;aulast=Lingappa
• ISSN: 0972-2327; 1998-3549

Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.