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Updated: Feb 28, 2026
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Functional and Morphological Assessment of Diaphragm Innervation by Phrenic Motor Neurons
Published on: May 25, 2015
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Diaphragmatic dysfunction in SEPN1-related myopathy.
Serena Caggiano1, Sonia Khirani2, Ivana Dabaj3
1AP-HP, Hôpital Necker-Enfants Malades, Pediatric noninvasive ventilation and sleep unit, Paris, France; Respiratory Unit, Pediatric Department Bambino Gesù Children's Hospital, Rome, Italy.
Neuromuscular Disorders : NMD
|June 14, 2017
Summary
SEPN1-related myopathy causes significant respiratory muscle weakness, particularly diaphragmatic dysfunction. Nocturnal noninvasive ventilation (NIV) may help stabilize respiratory muscle strength in affected individuals.
Area of Science:
- Neurology
- Pulmonology
- Genetics
Background:
- SEPN1-related myopathy (SEPN1-RM) presents with axial muscle weakness, scoliosis, and severe respiratory insufficiency.
- Understanding the mechanisms of respiratory dysfunction is crucial for managing SEPN1-RM.
Purpose of the Study:
- To characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients.
- To evaluate the impact of nocturnal noninvasive ventilation (NIV) on respiratory muscle strength.
Main Methods:
- Measured breathing patterns and respiratory muscle strength using esophageal (Pes) and gastric (Pgas) pressures.
- Studied seven patients (ages 7-55) with SEPN1-RM, including five on long-term NIV.
- Assessed forced vital capacity (FVC) and respiratory muscle strength (inspiratory, expiratory, diaphragmatic).
Main Results:
- Patients exhibited reduced FVC and varying degrees of inspiratory, expiratory, and diaphragmatic muscle weakness.
- An increased contribution of rib cage and expiratory muscles was observed in pediatric patients.
- The adult patient showed bilateral diaphragmatic paralysis.
- FVC and respiratory muscle strength remained stable in two patients on nocturnal NIV over a 3-year follow-up.
Conclusions:
- Diaphragmatic dysfunction is a key feature of SEPN1-RM.
- Nocturnal NIV appears to stabilize respiratory muscle strength decline in SEPN1-RM patients.
- Further research into respiratory management strategies for SEPN1-RM is warranted.
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