Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be present at birth or appear in infancy, and a static or slowly progressive clinical course may present with muscle weakness, loss of spontaneous movement, involuntary muscle activity, and muscle atrophy. Often patients develop a restrictive syndrome and respiratory failure and require respiratory support In our case, we described lung improvement and respiratory muscle training due to singing in a young patient, affected by CMs with a poor adherence to non-invasive mechanical ventilation.
Keyphrases
- mechanical ventilation
- early onset
- skeletal muscle
- respiratory failure
- lung function
- end stage renal disease
- intensive care unit
- acute respiratory distress syndrome
- late onset
- multiple sclerosis
- chronic kidney disease
- cystic fibrosis
- newly diagnosed
- ejection fraction
- air pollution
- prognostic factors
- physical activity
- body mass index
- insulin resistance
- adipose tissue
- metabolic syndrome
- pregnancy outcomes