title: Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
abstract: Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1), recently referred to as distal spinal muscular atrophy 1 (DSMA1; MIM#604320) and also known as distal hereditary motor neuropathy type 6 (dHMN6 or HMN6), results from mutations in the IGHMBP2 gene on chromosome 11q13.3 encoding the immunoglobulin micro-binding protein 2. In contrast to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, foot deformities, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation. In this article, the authors review the clinical, neuropathological, and genetic aspects of distal spinal muscular atrophy 1 and discuss differential diagnoses.
authors.affiliation: Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
authors.forename: Ulf-Peter
authors.initials: UP
authors.lastname: Guenther
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
authors.forename: Christoph
authors.initials: C
authors.lastname: Hübner
authors.forename: Katja
authors.initials: K
authors.lastname: von Au
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018908:Muscle Weakness / Q000175:diagnosis / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D012133:Respiratory Paralysis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors