Open AccessThe value of respiratory muscle testing in a child with congenital muscular dystrophy
Author(s) -
Khirani Sonia,
Dabaj Ivana,
Amaddeo Alessandro,
Ramirez Adriana,
QuijanoRoy Susana,
Fauroux Brigitte
Publication year - 2014
Publication title -
respirology case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.304
H-Index - 9
ISSN - 2051-3380
DOI - 10.1002/rcr2.61
Subject(s) - medicine , congenital muscular dystrophy , muscle contracture , muscular dystrophy , congenital myopathy , diaphragmatic breathing , magnetic resonance imaging , collagen vi , cardiology , pathology , muscle biopsy , anatomy , radiology , biopsy , extracellular matrix , biology , alternative medicine , microbiology and biotechnology
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 U llrich CMD . Skin‐cultured fibroblasts showed intracellular retention of collagen 6 ( COL 6), muscle magnetic resonance imaging was typical of COL 6 myopathy, and molecular studies identified a COL 6 gene mutation ( COL6A2 c.954+2 T > 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.