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Diaphragmatic dysfunction in Collagen VI myopathies.

S Quijano-Roy1, S Khirani2, M Colella3

  • 1Service de Pédiatrie, Centre de Référence Maladies Neuromusculaires (GNMH), AP-HP, Hôpital Raymond Poincaré, Garches, France; Université Versailles UVSQ, France; INSERM, UMRS_974, Paris, France.

Neuromuscular Disorders : NMD
|December 10, 2013
PubMed
Summary

Collagen VI myopathies cause progressive respiratory issues, primarily due to constant diaphragmatic dysfunction and fatigue. Early detection of these respiratory muscle problems is crucial for managing the condition.

Keywords:
Bethlem myopathyCOLVI-related myopathyDiaphragmMotor function measure scaleRespiratory functionUllrich congenital muscular dystrophyWhole body muscle magnetic resonance imaging

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Area of Science:

  • Neurology
  • Pulmonology
  • Genetics

Background:

  • Collagen VI-related myopathies are hereditary neuromuscular disorders.
  • These conditions lead to progressive restrictive respiratory insufficiency.
  • Diaphragm involvement is suspected in Collagen VI myopathies.

Purpose of the Study:

  • To characterize the respiratory muscle phenotype in patients with COL6A1-3 gene mutations.
  • To investigate diaphragm involvement and function in Collagen VI myopathies.
  • To correlate respiratory findings with clinical disease presentation.

Main Methods:

  • Evaluated 7 patients (aged 6-28) with COL6A1-3 mutations.
  • Measured lung function (Forced Vital Capacity), blood gases, muscle strength, and respiratory mechanics.
  • Assessed diaphragmatic function using sniff maneuver (gastric pressure) and tension-time index.

Main Results:

  • Forced Vital Capacity distinguished Mild (<60%) from Early-Severe/Moderate-Progressive (<50%) groups.
  • Diaphragmatic dysfunction at rest occurred in Early-Severe and Moderate-Progressive patients.
  • All patients exhibited diaphragmatic dysfunction during sniff maneuvers and diaphragmatic fatigue (TTI > 0.15).

Conclusions:

  • Diaphragmatic dysfunction and fatigue are constant features in Collagen VI myopathies.
  • Respiratory muscle assessment aids in diagnosis and clinical management.
  • Early detection of sleep-disordered breathing is recommended.