S.P.28 Reported incidence of orthopedic and cardiopulmonary complications in patients with congenital muscle disease

Abstract

<h2>Abstract</h2> Congenital muscle disease, including congenital myopathies (CM) and congenital muscular dystrophies (CMD) may develop hip dysplasia, progressive joint contractures, and scoliosis, sometimes leading to surgical intervention. Both the incidence of orthopedic problems and cardiopulmonary abnormalities that may impact surgical management and patient outcomes in certain CM/CMD subtypes are unknown. Defining the incidence and outcome of orthopedic and cardiopulmonary involvement per CM/CMD subtype will direct pre and post-surgical management to improve patient care. The objective was to determine the incidence of orthopedic, pulmonary and cardiac problems in CM/CMD subtypes. A PubMed search of peer-reviewed literature limited to human case reports, series, and multicenter studies was performed with the keywords "congenital myopathy," "congenital muscular dystrophy" and CM/CMD specific genes. We excluded articles that did not report on orthopedic, pulmonary or cardiac involvement and excluded patients without genetic confirmation or if symptom onset was after 2years of age. Twenty-eight articles met the review criteria, which included 365 patients who had CM/CMD with confirmed mutations in either ACTA1, COL6, DNM2, FKTN, LAMA2, LMNA, POMT1, POMT2, POMGnT1, LARGE, RYR1, or SEPN1. There were 504 orthopedic findings, including congenital hip dislocation (24), torticollis (15), joint contractures (201), joint laxity (42), and abnormal spinal curvatures (222). More than half of patients (210) had respiratory compromise with 114 patients requiring ventilatory support. 27 patients had documented cardiac abnormalities. Orthopedic manifestations, respiratory compromise, and cardiac abnormalities are common in patients with congenital muscle disease. Pre-surgical cardiac and respiratory evaluations are indicated.