title: Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
abstract: BACKGROUND
  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.
  
  
  METHODS
  Pediatric intensive care unit of tertiary care hospital.
  
  
  METHODS
  We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin mu-binding protein 2 on chromosome 11q13.
  
  
  CONCLUSIONS
  SMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6months of life. Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis.
authors.affiliation: Pediatric Intensive Care Unit, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Via della Commenda 9, 20122, Milan, Italy. a.giannini@policlinico.mi.it
authors.forename: Alberto
authors.initials: A
authors.lastname: Giannini
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Pinto
authors.forename: Giordano
authors.initials: G
authors.lastname: Rossetti
authors.forename: Edi
authors.initials: E
authors.lastname: Prandi
authors.forename: Danilo
authors.initials: D
authors.lastname: Tiziano
authors.forename: Christina
authors.initials: C
authors.lastname: Brahe
authors.forename: Nardo
authors.initials: N
authors.lastname: Nardocci
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D009477:Hereditary Sensory and Autonomic Neuropathies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012121:Respiration, Artificial; D012133:Respiratory Paralysis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors