Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)-Reference-Cited by-同舟云学术

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Published:2007-12-13 Issue:2 Volume:23 Page:199-204
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Kaindl Angela M.¹,Guenther Ulf-Peter²,Rudnik-Schöneborn Sabine³,Varon Raymonda⁴,Zerres Klaus³,Schuelke Markus⁵,Hübner Christoph⁶,von Au Katja⁵

Affiliation:

1. 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

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

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

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

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

6. Department of Pediatric Neurology, Charité, University Medical Center, Berlin, Germany, MD-NET, Bonn, Germany,

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 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.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073807310989

Reference22 articles.

1. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

2. Rudnik-Schöneborn S., de Visser M., Zerres K. Spinal muscular atrophies. In: Engel AG, Franzini-Armstrong C, eds. Myology, Basic and Clinical. 3rd ed., volume II. New York : McGraw-Hill; 2004:1845-1864.

3. Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

4. Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

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