Megaconial CMD affect multiple systems, and as such treatment should be carried out by a multi-disciplinary team based on the symptoms manifested in the patient. The management should follow the Standard of Care Guidelines for congenital muscular dystrophy, which may include subspecialty care with teams from the neurology, cardiology, orthopaedic, pulmonary, gastrointestinal and nutritional, and rehabilitation, and learning support and behavioural management departments. All affected patients should have regular follow-ups to monitor their progress.
For those with dilated cardiomyopathy, medical treatment for the management of heart failure is necessary. Anti-convulsant is needed for those with recurrent seizures and epilepsy. Early multi-disciplinary education and rehabilitation intervention is recommended to those with global developmental delay and autism spectrum disorder. Continuous special education support is provided to those with intellectual disability and behavioural difficulties. Use of orthosis and possible orthopaedic surgeries is considered for those with secondary musculoskeletal complications such as development of scoliosis and joint contractures. Rehabilitation equipment such as walker, scooter, electrical wheelchair is recommended to enhance mobility independency.
CHKB