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Khirani S, Dabaj I, Amaddeo A, et al. The value of respiratory muscle testing in a child with congenital muscular dystrophy. Respirol Case Rep. 2014;2(3):95-8doi: 10.1002/rcr2.61.
Khirani, S., Dabaj, I., Amaddeo, A., Ramirez, A., Quijano-Roy, S., & Fauroux, B. (2014). The value of respiratory muscle testing in a child with congenital muscular dystrophy. Respirology case reports, 2(3), 95-8. https://doi.org/10.1002/rcr2.61
Khirani, Sonia, et al. "The value of respiratory muscle testing in a child with congenital muscular dystrophy." Respirology case reports vol. 2,3 (2014): 95-8. doi: https://doi.org/10.1002/rcr2.61
Khirani S, Dabaj I, Amaddeo A, Ramirez A, Quijano-Roy S, Fauroux B. The value of respiratory muscle testing in a child with congenital muscular dystrophy. Respirol Case Rep. 2014 Sep;2(3):95-8. doi: 10.1002/rcr2.61. Epub 2014 Jun 30. PMID: 25473580; PMCID: PMC4184737.
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Respirol Case Rep. 2014 Sep;2(3):95-8. doi: 10.1002/rcr2.61. Epub 2014 Jun 30.

The value of respiratory muscle testing in a child with congenital muscular dystrophy.

Respirology case reports

Sonia Khirani, Ivana Dabaj, Alessandro Amaddeo, Adriana Ramirez, Susana Quijano-Roy, Brigitte Fauroux

Affiliations

  1. ASV Santé Gennevilliers, France ; AP-HP, Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker Paris, France.
  2. AP-HP, Pediatric Department, Reference Centre for Neuromuscular Disorders (GNMH), Hôpital Raymond Poincaré Garches, France.
  3. Institute for Maternal and Child Health, Pediatric Department, IRCCS Burlo Garofolo Trieste, Italy.
  4. AP-HP, Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker Paris, France ; ADEP Assistance Suresnes, France.
  5. AP-HP, Pediatric Department, Reference Centre for Neuromuscular Disorders (GNMH), Hôpital Raymond Poincaré Garches, France ; Versailles UVSQ University Versailles, France ; UMRS_974, Inserm Paris, France.
  6. AP-HP, Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker Paris, France ; U 955, Equipe 13, INSERM Créteil, France ; Paris Descartes University Paris, France.

PMID: 25473580 PMCID: PMC4184737 DOI: 10.1002/rcr2.61

Abstract

Respiratory muscle testing is often limited to noninvasive volitional tests such as vital capacity and maximal static pressures. We report the case of a 12-year-old boy with congenital muscular dystrophy (CMD) in whom invasive and non-volitional respiratory muscle tests showed an elective diaphragmatic dysfunction with the preservation of expiratory muscle strength. This finding, coupled with a clinical phenotype associating diffuse muscle atrophy with finger hyperlaxity and proximal contractures, strengthened the suspicion of Ullrich CMD. Skin-cultured fibroblasts showed intracellular retention of collagen 6 (COL6), muscle magnetic resonance imaging was typical of COL6 myopathy, and molecular studies identified a COL6 gene mutation (COL6A2 c.954+2T>C). The diagnosis of a diaphragmatic dysfunction led to a sleep study that evidenced periods of hypoxemia which justified nocturnal noninvasive ventilation. This case report highlights the benefit of assessing respiratory muscles, through invasive procedure, to assist in clinical diagnosis and to guide clinical management.

Keywords: COL6-related myopathy; Ullrich congenital muscular dystrophy; diaphragm; respiratory function; vital capacity

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