title: Heterogeneity in spinal muscular atrophy with respiratory distress type 1.
abstract: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory distress secondary to diaphragmatic weakness and progressive distal weakness. Sensory and autonomic dysfunctions sometimes accompany the motor weakness. This report describes a male infant with genetically confirmed SMARD1 presenting with onset of disease in the first two weeks of life with respiratory compromise and urinary retention, which has not been reported before and adds to the phenotypic variability of SMARD 1.
authors.affiliation: Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK.
authors.forename: Aziz
authors.initials: A
authors.lastname: Majid
authors.forename: Khan
authors.initials: K
authors.lastname: Talat
authors.forename: Lumsden
authors.initials: L
authors.lastname: Colin
authors.forename: Ross
authors.initials: R
authors.lastname: Caroline
authors.forename: Kingston
authors.initials: K
authors.lastname: Helen
authors.forename: De Goede
authors.initials: de G
authors.lastname: Christian
keywords: Immunoglobulin mu-binding protein gene; Spinal muscular atrophy with respiratory distress type 1; respiratory distress; urinary retention
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