[Chinese expert consensus on the diagnosis and treatment of Becker muscular dystrophy].

Becker muscular dystrophy (BMD) is an X-linked recessive myopathy caused by pathogenic variants of the dystrophin-encoding DMD gene. The clinical presentation of BMD encompasses four clinical subtypes: limb-girdle muscle weakness, quadriceps myopathy, isolated cramp-pain syndrome, and asymptomatic hyper-creatine kinase-emia. Patients may also present with cardiopulmonary involvement, neuropsychological issues, joint contractures, and spinal deformities. Diagnosis primarily relies on genetic testing and/or muscle biopsies. The treatment and management of BMD requires comprehensive and multidisciplinary interventions involving specialists in neurology, cardiology, respiratory medicine, rehabilitation medicine, orthopedics, gastroenterology, anesthesiology, clinical nutrition, psychology, and medical genetics. This coordinated approach aims to preserve patients' motor function, bone/joint function, cardiopulmonary function, and digestive function, while maintaining a good nutritional status and psychological well-being. To standardize the diagnosis, treatment, and management of BMD in China, a joint committee comprising multidisciplinary experts from the Chinese Medical Association Rare Disease Branch and the Beijing Medical Association Rare Disease Branch was established. This committee formulated the Chinese expert consensus on the diagnosis and treatment of BMD, with the primary objectives of improving patient quality of life and reducing the disease burden.