The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: A systematic review

Francesca Porro, Paola Rinchetti, Francesca Magri, Giulietta Riboldi, Monica Nizzardo, Chiara Simone, Chiara Zanetta, Irene Faravelli, Stefania Corti

Research output: Contribution to journalArticlepeer-review

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin μ-binding protein. SMARD1 patients usually present low birth weight, diaphragmatic palsy and distal muscular atrophy. Clinical features are still the most important factor that leads to the diagnosis of SMARD1, due to the fact that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity. In the present review, we will systematically discuss the genetic, clinical and neuropathological features of SMARD1 in order to provide a complete overview of SMARD1 variable clinical presentations and of the most important diagnostic tools which can be used to identify and properly manage affected individuals. This background is crucial also in the perspective of the development of novel therapeutic strategies for this still orphan disorder.

Original languageEnglish
Pages (from-to)35-42
Number of pages8
JournalJournal of the Neurological Sciences
Volume346
Issue number1-2
DOIs
Publication statusPublished - Nov 15 2014

Keywords

  • Clinical presentations
  • Diagnostic criteria
  • IGHMBP2 gene
  • Immunoglobulin μ binding protein
  • Infantile neuromuscular disorders
  • SMARD1

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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