title: Growing up with spinal muscular atrophy with respiratory distress (SMARD1).
abstract: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited neuromuscular condition resulting from recessive mutations in the immunoglobulin mu-binding protein (IGHMBP2) gene. Affected individuals characteristically present in infancy with progressive distal weakness and respiratory distress secondary to diaphragmatic weakness. Considerable clinical heterogeneity has been described both in its presentation and phenotype in childhood; however little data pertaining to phenotype in adulthood have been reported to date. This report describes a 21 year old woman with genetically confirmed SMARD1 who has stable muscle weakness, normal cognitive abilities and is able to lead a socially integrated lifestyle, using mechanical ventilation only overnight. This report adds new evidence for clinical variability throughout the course of SMARD1.
authors.affiliation: West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, United Kingdom. Electronic address: markhamilton1@nhs.net.
authors.forename: Mark James
authors.initials: MJ
authors.lastname: Hamilton
authors.affiliation: West of Scotland Clinical Genetics Service, Southern General Hospital, Glasgow, United Kingdom.
authors.forename: Cheryl
authors.initials: C
authors.lastname: Longman
authors.affiliation: Department of Paediatric Neurology, Royal Aberdeen Children's Hospital, Aberdeen, United Kingdom.
authors.forename: Ann
authors.initials: A
authors.lastname: O'Hara
authors.affiliation: Department of Paediatric Neurology, Tayside Children's Hospital, Dundee, United Kingdom.
authors.forename: Martin
authors.initials: M
authors.lastname: Kirkpatrick
authors.affiliation: Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom.
authors.forename: Robert
authors.initials: R
authors.lastname: McWilliam
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors
keywords: Distal neuropathy; IGHMBP2; Respiratory distress; SMARD1; Spinal muscular atrophy with respiratory distress