Diagnosis and Treatment of Duchenne Muscular Dystrophy

DIAGNOSIS

Creatinine phosphokinase(CK) - Extremely elevated (increases than 10 times the normal value).
Muscle biopsy - Using a needle, the doctor removes a tiny piece of your child's muscle. It shows fiber necrosis, fat infiltration, no dystrophin on staining.
EMG( Electromyography) - Recording of the electrical activity of the muscle tissue. It shows the weakness in muscle due to dysfunction in muscle fiber.
Electromyography
Cardiac investigation - ECG and Chest X-ray.

There is no cure for Duchenne muscular dystrophy (DMD).
Treatment is based on controlling the symptoms of DMD and related complications caused by severe progressive muscle weakness and loss.
Medications (such as steroids) may improve the function and strength of the muscles.
Additional medications are available for people with DMD with a specific DNA variant. These can improve the strength and function of the muscle.
An enlarged, weakened heart ( dilated cardiomyopathy) may be treated with medications, but in severe cases, a heart transplant may be necessary.
Assistive devices for breathing difficulties may be needed, especially at night, and as the disease progresses.

This is supportive only, with physiotherapy, nutritional support, orthopedic involvement, and occupational therapy.
Appropriate exercise helps to maintain muscle power and delays the onset of scoliosis.
Contractures, particularly at the ankles, should be prevented by passive stretching and the provision of night splints.
Night splints
Attention to maintaining a good sitting postures helps to minimize the risk of scoliosis.
As with all chronic disability conditions, parent self-help groups are a useful continuing source of information and support for families.
Affected children should be reviewed periodically at a specialist regional center.
Ambulant children with Duchenne dystrophy are increasingly treated with corticosteroids (prednisolone for 10 days each month) to preserve mobility and prevent scoliosis.