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Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report.

Chenliang Zhao1, Yongxiang Li2, Jinhui Li3

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|October 20, 2025
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Summary

A new RYR1 gene mutation caused congenital myopathy presenting as respiratory failure. Multidisciplinary care improved outcomes in this late-onset case, expanding understanding of RYR1 myopathies.

Keywords:
RYR1congenital myopathyrespiratory failuretreatment

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Area of Science:

  • Genetics
  • Neuromuscular Disorders
  • Respiratory Medicine

Background:

  • Congenital myopathies are a group of inherited muscle diseases presenting at birth or early childhood.
  • RYR1 gene mutations are a common cause of congenital myopathies, but genotype-phenotype correlations are still being defined.
  • Late-onset presentations of congenital myopathies, particularly with respiratory failure, are less common and pose diagnostic challenges.

Purpose of the Study:

  • To report a novel RYR1 mutation (c.C5701T:p.Q1901X) identified in a patient with late-onset congenital myopathy.
  • To describe the clinical presentation, focusing on acute respiratory failure as the primary manifestation.
  • To highlight the importance of multidisciplinary intervention in managing functional outcomes.

Main Methods:

  • Genetic sequencing to identify the RYR1 mutation.
  • Clinical assessment of a 51-year-old female with acute respiratory failure.
  • Review of interventions including ventilator support, tracheostomy, and rehabilitation.

Main Results:

  • Identification of a novel RYR1 mutation (c.C5701T:p.Q1901X).
  • The patient presented with acute respiratory failure as the initial symptom of congenital myopathy.
  • Multidisciplinary interventions led to significant improvement in functional outcomes.

Conclusions:

  • This case expands the known genotype-phenotype spectrum of RYR1-related myopathies.
  • Congenital myopathy can present with respiratory failure as the primary manifestation, even in adulthood.
  • Targeted, multidisciplinary care is crucial for improving outcomes in late-onset RYR1 myopathies.