title: Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.
abstract: 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.
authors: Department of Pediatric Neurology, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
authors: Lokesh
authors: L
authors: Lingappa
authors: Department of Pediatric Neurology, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
authors: Nikit
authors: N
authors: Shah
authors: Department of Pediatric Critical Care, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
authors: Ananth Sagar
authors: AS
authors: Motepalli
authors: Department of Pediatric Critical Care, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
authors: Farhan
authors: F
authors: Shaik
keywords: Atrophy; SMARD1; Spinal; Type VI; autosomal recessive; diaphragmatic spinal muscular atrophy; distal spinal muscular atrophy; muscular atrophy; neuronopathy; neuronopathy severe infantile axonal with respiratory failure