Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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.
Kaindl
Angela M
AM
Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany.
Guenther
Ulf-Peter
UP
Rudnik-Schöneborn
Sabine
S
Varon
Raymonda
R
Zerres
Klaus
K
Schuelke
Markus
M
Hübner
Christoph
C
von Au
Katja
K
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
D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors