Orthopaedic abnormalities in primary myopathies

Orthopaedic abnormalities are frequently recognised in patients with myopathy but are hardly systematically reviewed with regard to type of myopathy, type of orthopaedic problem, and orthopaedic management. This review aims to summarize recent findings and current knowledge about orthopaedic abnormalities in these patients, their frequency, and possible therapeutic interventions. A MEDLINE search for the combination of specific terms was carried out and appropriate articles were reviewed for the type of myopathy, types of orthopaedic abnormalities, frequency of orthopaedic abnormalities, and possible therapeutic interventions. Orthopaedic abnormalities in myopathies can be most simply classified according to the anatomical location into those of: the spine, including dropped head, camptocormia, scoliosis, hyperlordosis, hyperkyphosis, or rigid spine; the thorax, including pectus excavatum (cobbler's chest), anterior/posterior flattening, or pectus carinatum (pigeon's chest); the limb girdles, including scapular winging and pelvic deformities; and the extremities, including contractures, hyperlaxity of joints, and hand or foot deformities. These orthopaedic abnormalities can be most frequently found in arthrogryposis, muscular dystrophies, congenital myopathies, myofibrillar myopathies, and myotonic dystrophies. Occasionally, they also occur in metabolic myopathies or other types of myopathy. Most of the orthopaedic abnormalities are sufficiently accessible to conservative or surgical orthopaedic treatment. Orthopaedic abnormalities have major implications in the management and outcome of myopathy patients; they should be closely monitored and treated on time.