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Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany, Laboratoire de Neurologie du Développement, Inserm-Paris U676, Hôpital Robert Debré, Paris, France, MD-NET, Bonn, Germany

Ulf-Peter Guenther

Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany, Department of Biology, Chemistry and Pharmacy, Free University of Berlin, Berlin, Germany

Sabine Rudnik-Schöneborn, MD

Insitute of Human Genetics, University Hospital, Technical University, Aachen, Germany, MD-NET, Bonn, Germany

Raymonda Varon, PhD

Institute of Human Genetics, Charité, University Medical Center, Berlin, Germany, MD-NET, Bonn, Germany

Klaus Zerres, MD

Insitute of Human Genetics, University Hospital, Technical University, Aachen, Germany, MD-NET, Bonn, Germany

Markus Schuelke, MD

Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany

Christoph Hübner, MD

Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany, MD-NET, Bonn, Germany, christoph.huebner{at}charite.de

Katja von Au, MD

Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany

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 µ-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.

Key Words: spinal muscular atrophy • distal spinal muscular atrophy • spinal muscular atrophy with respiratory distress • DSMA1 • SMARD1 • IGHMBP2

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