Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) constitute the two most important groups of congenital onset muscle diseases. They represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of the respiratory muscles is crucial for clinical management of patients and the evaluation of innovative therapies. This review provides an overview of respiratory muscle tests that can be used in clinical practice in children with CMDs and CMs.
