Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.
Neuromuscul Disord
; 30(7): 593-598, 2020 07.
Article
em En
| MEDLINE
| ID: mdl-32654952
ABSTRACT
Diaphragmatic dysfunction has been reported in congenital myopathies, muscular dystrophies, and occasionally, mitochondrial respiratory chain deficiency. Using a minimally invasive procedure in 3 young girls, 1 with a heteroplasmic MT-CYB mutation and 2 with biallelic pathogenic TK2 variants, we provided functional evidence of diaphragmatic dysfunction with global respiratory muscle weakness in mitochondrial respiratory chain deficiency. Analysis of respiratory muscle performance using esogastric pressures revealed paradoxical breathing and severe global inspiratory and expiratory muscle weakness with a sniff esophageal inspiratory pressure and a gastric pressure during cough averaging 50% and 40% of predicted values, respectively. This diaphragmatic dysfunction was responsible for severe undiagnosed nocturnal hypoventilation, requiring noninvasive ventilation. Our results underline the interest of this minimally invasive procedure for the evaluation of respiratory muscle performance and its potential value for the monitoring of future clinical trials in respiratory chain deficiency.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diafragma
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Doenças Mitocondriais
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Hipoventilação
Limite:
Child
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Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article