title: [A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
abstract: Distal spinal-muscular atrophy 1 (DSMA1) or spinal-muscular atrophy with respiratory distress type 1 (SMARD1) is a rare neuromuscular disorder resulting from IGHMBP2 mutations. It is an autosomal recessive disease. We present the case of a 1-year-old girl admitted for respiratory failure associated with pneumonia. Right hemidiaphragmic elevation on the chest radiograph and distal retractions suggested the diagnosis of DSMA1. It was confirmed by muscle biopsy and molecular analysis. This unrecognized diagnosis should be considered when respiratory failure develops in the first year of life and is associated with diaphragmatic paralysis and distal muscle atrophy. Electromyography with measurement of nerve conduction velocity and muscle biopsy suggest the diagnosis, which must be confirmed by genetic analysis. After identifying the mutations, it is possible to perform prenatal diagnosis.
authors.affiliation: Service de médecine néonatale et réanimation pédiatrique, hôpital Couple Enfant, CHU de Grenoble, 38043 Grenoble cedex 09, France. MChalancon@chu-grenoble.fr
authors.forename: M
authors.initials: M
authors.lastname: Chalançon
authors.forename: T
authors.initials: T
authors.lastname: Debillon
authors.forename: K
authors.initials: K
authors.lastname: Dieterich
authors.forename: M-C
authors.initials: MC
authors.lastname: Commare
mesh_terms: D001706:Biopsy; D004268:DNA-Binding Proteins / Q000235:genetics; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology; D009154:Mutation; D011014:Pneumonia / Q000150:complications; D012131:Respiratory Insufficiency / Q000209:etiology*; D012133:Respiratory Paralysis / Q000150:complications / Q000235:genetics; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors