Abstract Congenital myopathy (CM) is a group of rare genetic disorders characterized by hypotonia, hyporeflexia, and weakness present at birth. The condition is estimated to affect between 0.7 and 4.4 per 100,000 children. Synthesizing physical exam findings, magnetic resonance imaging results, muscle biopsy morphology, and genetic testing results is necessary to reach a specific CM sub-diagnosis. Major forms of CM include nemaline myopathy, core myopathies, and centronuclear myopathies. CM diagnoses can lead to the onset of scoliosis as well as a host of other neurological, cardiological, and pulmonological comorbidities. Patients often are required to consult a wide variety of clinical specialties to obtain appropriate care for this condition. Orthopedic pathologies, including congenital hip dysplasia, ligamentous laxity, and early onset scoliosis (EOS), are common in CM patients. EOS is particularly severe in SEPN1 - and ryanodine receptor ( RYR1) -related myopathies, often necessitating nighttime respiratory support and surgical correction. While not many patients diagnosed with CM will require surgical intervention, research indicates that outcomes following surgery are similar for patients with other neuromuscular conditions across growth-friendly (GF) techniques like vertical expander prosthetic titanium rib, traditional growing rods, and magnetically controlled growing rods. Further investigation is needed to understand the full risk profile of performing surgery in patients with congenital myopathies.
Coleman et al. (Fri,) studied this question.