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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Clinical presentations and pathophysiological mechanisms of dystroglycanopathy: advancing therapeutic strategies

Ameya S Walimbe1, Francesco Muntoni2, Kevin P Campbell3

  • 1Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

The Lancet. Neurology
|June 17, 2026
PubMed

Insights

Dystroglycanopathies, a group of muscular dystrophies, stem from impaired α-dystroglycan function. Emerging therapies like gene therapy offer new hope for treating these complex genetic muscle disorders.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Dystroglycanopathies are a class of muscular dystrophies characterized by loss of function in the α-dystroglycan receptor.
  • This receptor is crucial for muscle and non-muscle tissue integrity.
  • Clinical presentations vary widely, from congenital forms to adult limb-girdle muscular dystrophy, often involving severe systemic complications.

Purpose of the Study:

  • To review the pathophysiology and genetic underpinnings of dystroglycanopathies.
  • To highlight current symptomatic management strategies.
  • To explore emerging therapeutic targets and clinical trial advancements.

Main Methods:

  • Literature review of pathophysiology and genetics.
  • Analysis of current clinical management approaches.
  • Survey of ongoing clinical trials for novel therapies.

Main Results:

  • Loss of α-dystroglycan function leads to diverse clinical phenotypes, including muscle weakness, cardiac issues, and CNS/ocular malformations.
  • Current treatments are primarily symptomatic.
  • New therapeutic avenues, including gene therapy and ribitol-based treatments, are under investigation.

Conclusions:

  • Understanding dystroglycanopathy mechanisms has identified promising therapeutic targets.
  • Gene therapy and other novel approaches show potential to improve treatment options for patients.
  • Further research and clinical trials are essential to translate these findings into effective clinical practice.

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