Functional deficits occur because of the scapulohumeral involvement, meaning the patient is unable to stabilize the scapula against their chest wall. When these functional deficits become severe, the treatment for this would be a scapulothoracic fusion, which includes fusing the scapula to the thoracic ribs. A diagnosis of this condition is confirmed by a muscle biopsy, an electromyography (EMG), and genetic testing.
After surgery, patients are immobilized with a sling combined with a pillow. This supports the scapula, and prevents the arm from moving around a lot. Patients can move their elbow and wrist as tolerated as long as the shoulder stays mobilized. The sutures are removed at the one week follow up. After 2-3 weeks, the patients are allowed pendulum exercises in addition to elbow and wrist range of motion and grip strengthening. Active forward elevation is not started until six weeks, and at three months, only if necessary, physical therapy is prescribed for patients who still have difficulty regaining range of motion and strength. At six weeks, x-rays are also taken to ensure fusion of the scapulothoracic junction.