A diagnostic challenge in an adolescent with collagen VI-related myopathy and emotional disorder–Case report

This case report describes the diagnosis of an intermediate form of collagen VI-related myopathy in a 12-year-old girl presenting with morning headache, irritability, and aggressiveness. As part of the patient's work-up, a respiratory evaluation (FVC, FEV1) was undertaken using the Vitalograph Pneumotrac spirometer with Spirotrac software.