Article

Current Neurology and Neuroscience Reports

, Volume 10, Issue 2, pp 83-91

Congenital Muscular Dystrophies: Toward Molecular Therapeutic Interventions

  • James CollinsAffiliated withDivision of Neurology, Cincinnati Children’s Hospital Medical Center
  • , Carsten G. BönnemannAffiliated withThe Children’s Hospital of Philadelphia, Division of Neurology, Abramson Research Center Email author 

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Abstract

Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of neuromuscular disorders that typically present at birth or in early infancy with hypotonia, weakness, and histologic evidence of a dystrophic myopathy. CMD biochemical types include various abnormalities of α-dystroglycan O-mannosyl glycosylation as well as defects in integrin matrix receptors, the extracellular matrix proteins laminin-α2 and collagen VI, nuclear proteins such as lamin A/C, and a protein of the endoplasmic reticulum, selenoprotein N. Current therapies are directed mostly at supportive care; however, recent advances in biotechnology and increased knowledge of the pathophysiology underlying the various CMD types have helped identify potential therapeutic strategies directed at genetic, molecular, and biochemical pathways involved in these disorders. In this article, we review our current understanding of the molecular pathogenesis of several CMD types and how these mechanisms may be therapeutically targeted.

Keywords

Congenital muscular dystrophies Alpha dystroglycan Integrin alpha7 Laminin alpha2 Merosin Collagen VI Selenoprotein N