Biomarkers of Respiratory Involvement in Neuromuscular Diseases: Focus on Duchenne Muscular Dystrophy

Amanda Maccarrone; Simone Morando; Noemi Brolatti; Chiara Panicucci; Lorenzo Chiarella; Agata Polizzi; Lino Nobili; Carlo Minetti; Martino Ruggieri; Claudio Bruno; Marina Pedemonte; Pasquale Striano; Federica Trucco

Abstract

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder. Progressive respiratory impairment significantly affects morbidity and mortality in DMD. Although the natural history of respiratory involvement follows a broadly recognizable pattern across motor functional stages, substantial variability is observed. This heterogeneity reflects the interplay of several determinants including genetic background, disease-related comorbidities and therapeutic regimens and results in distinct respiratory phenotypes. Sensitive biomarkers are needed to detect early subclinical dysfunction, to monitor disease progression, to provide prognostic insight, and, ultimately, to serve as sound endpoints in clinical and research settings. In this review, standard outcome measures such as pulmonary function tests (PFTs), as well as emerging methodologies are critically appraised. The strength and weakness of biomarkers such as the Rideau Plot (forced vital capacity plotted against age), thoraco-abdominal kinematics, nocturnal hypoventilation and other sleep-related breathing disorders, imaging techniques (diaphragm ultrasound and respiratory muscle MRI), molecular biomarkers including circulating myomiRs and genetic modifiers are discussed. Each of these approaches provides complementary insights on the respiratory impairment across disease stages in DMD. In this review a multimodal strategy is advocated for, in order to capture the multifaceted aspects of the disease and guide individualized care toward precision medicine. To this end, broader, long-term longitudinal studies will be crucial to standardize and validate clinical and pre-clinical approaches, to establish normative data for paediatric age-range, and to assess the prognostic and predictive power of composite biomarkers across disease stages.

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