Duchenne Muscular Dystrophy (DMD)

DMD symptoms usually begin in early childhood and worsen over time. Symptoms include progressive muscle weakness, difficulty running or climbing stairs, frequent falls, and enlarged calf muscles. Some may experience delayed motor milestones, fatigue, and trouble rising from the floor. 

DMD diagnosis involves evaluating clinical symptoms, family history, and performing a physical examination. Blood tests may show elevated levels of creatine kinase, reflecting muscle damage. Genetic testing may be carried out to confirm mutations in the dystrophin gene. In some cases, muscle biopsy, cardiac evaluation, and pulmonary function tests may also be conducted to assess disease involvement.

There is no definitive cure for DMD. Treatment focuses on slowing disease progression and managing complications. Treatment options may include corticosteroids, physical therapy, respiratory care, cardiac monitoring, and supportive interventions to preserve mobility and function.

DMD treatment at Manipal Hospitals is multidisciplinary and involves neurologists, cardiologists, pulmonologists, physiotherapists, and rehabilitation experts. Management is initiated after a clinical examination and genetic confirmation of a mutation in the dystrophin gene.

In the early stages, treatment is directed towards maintaining muscle strength, flexibility, and mobility. Corticosteroid treatment is used to slow muscle degeneration and improve motor abilities. Mobility can be maintained, and joint contractures can be delayed with the use of physiotherapy, stretching exercises, and assistive devices.

As the disease progresses, close monitoring of respiratory and cardiac function is recommended. Lung function is assessed regularly, and breathing support or assisted ventilation may be initiated if required. Cardiac function is evaluated with echocardiography to monitor for the development of cardiomyopathy, which may occur in DMD.

Most patients eventually require mobility assistance, such as braces, wheelchairs, or other supportive aids. A nutritionist monitors the patient's diet and recommends supplements as needed. Coordinated care and regular follow-up help to minimise the complications of DMD, improving the patient's comfort and overall quality of life.