Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy

ABSTRACT Introduction: Sarcoglycanopathies (SG) are caused by a mutation in SGCA, SGCB, SGCG, or SGCD genes and present a wide spectrum of muscle involvement and wasting. The clinical phenotypes due to a mutation in the sarcoglycan genes include severe childhood-onset forms, proximal myopathies, pseudometabolic myopathies, myopathies with respiratory complication, and hyperCKemia syndromes. Dilated cardiomyopathy is more frequent and severe in LGMD2E/R4 and LGMD2F/R6. Areas covered: In this paper, the authors review clinical, epidemiological evidence-based studies for better understanding the clinical signs, natural history and provide an update on current diagnostic and therapeutic options linked to the management of respiratory insufficiency present in 26% of the cases and cardiac complications present in 22% of the cases, as well as physiotherapy/rehabilitation and drug treatment. We also briefly over-view new treatments specific to genetic mutations and clinical trials on gene therapy. The papers covering the diagnosis and clinical respiratory care and cardiac complications of sarcoglycanopathies were reviewed in PubMed since the year 1997 and we chose to analyze those that covered series of patients, animal studies were only annotated when relevant to pathophysiology or advances in treatment. Expert opinion: Accurate molecular diagnosis of sarcoglycanopathy patients is crucial in order to offer precise genetic counseling and clinical care, both to offer effective management and to prevent cardiac insufficiency. It is important both for an early treatment of dilated cardiomyopathy and to prevent severe respiratory complications in specific subgroups of patients.