Muscular Dystrophy


Muscular Dystrophy

Muscular Dystrophy is a progressive disease presented with weakness and atrophy in the muscles. This genetically transformed disease has many types.  The main problem is cause by certain gene flaws interfering in the production of certain proteins like dystrophin in muscle cells. That deficiency leads the muscles develop and function in normal way.

Duchenne Muscular Dystrophy 

DMD is the most commonly seen muscular dystrophy. It is seen in boys. DMD is transmitted autosomal recessively.   The children with DMD may have a clumsy gait and might experience difficulty in walking. These children characteristically have enlarged calf muscles. The most striking physical finding is having difficulty and needing support of hand while rising from sitting position. This pattern is called Gower’s sign. The symptoms vary depending of the stage of disease. It ranges from getting tired easily during physical activity or walking to spinal curvatures, inability to walk, contractures of muscles and tendons, respiratory and cardiac problems.

Diagnostic Tests

Your physician will need further testing for the definitive diagnosis.

Serum Creatinine Kinase level is extremely high (at the least 20 folds) in muscular dystrophy

Electromyography (EMG) An electrode needle is inserted in the muscle and electrical activity of the muscle is measured during tightening and relaxing.

Muscle Biopsy. It is used to be done more frequently before the genetic tests. However, your doctor may still ask for it.

Genetic tests. Most can be done from the patients blood sample.

Cardiac and Respiratory Diseases consultation. Cardiac function is usually evaluated with physical exam, Electrocardiography, and echocardiogram. Lung function is also checked.

If your pediatric orthopedic surgeon is concerned about a curvature in your back, scoliosis, he/she may require radiological evaluation as well.

Scoliosis (Muscular Dystrophy)

Scoliosis

Treatment

Unfortunately, there is no definitive treatment for the muscular dystrophy for the time being, although ongoing research studies are promising. 

Current treatment aims to increase the quality of life, decrease and alleviate the symptoms and disability. 

Eteplirsen and corticosteroids are the main drugs used in the treatment. These medicines may help muscle strength and delay the progression in some patients in some muscular dystrophy types.

Physical therapy and brace, splints are used to maintain activity and prevent contracture.

Most pediatric orthopedic surgeons avoid release of muscle contractures. However, if the scoliosis is severe, it might require surgery to maintain longer respiratory function.

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