Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

Matteo Saladini, Monica Nizzardo, Alessandra Govoni, Michela Taiana, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Research output: Contribution to journalReview articlepeer-review

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ-binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the literature about SMARD1. The vast majority of patients show an onset of typical symptoms in the first year of life. The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required. No effective treatment is available yet, but novel therapeutic approaches, such as gene therapy, have shown encouraging results in preclinical settings and thus represent possible methods for treating SMARD1. Significant advancements in the understanding of both the SMARD1 clinical spectrum and its molecular mechanisms have allowed the rapid translation of preclinical therapeutic strategies to human patients to improve the poor prognosis of this devastating disease.

Original languageEnglish
Pages (from-to)1169-1178
JournalJournal of Cellular and Molecular Medicine
Volume24
Issue number2
DOIs
Publication statusPublished - 2020

Keywords

  • gene therapy
  • IGHMBP2
  • motor neuron disease
  • Spinal muscular atrophy with respiratory distress type 1

ASJC Scopus subject areas

  • Molecular Medicine
  • Cell Biology

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