A personal background and physical assessment are likely to be performed by the doctor.
Following that, your physician can advise:
• Assays for enzymes Damaged muscles pump enzymes into the bloodstream, including creatine kinase (CK). High blood levels of CK mean muscle disease in people who haven't suffered a physical accident.
• DNA analysis. Mutations of some of the genes linked to muscular dystrophy may be seen in blood samples.
• A biopsy of the muscles Via an incision or through a hollow blade, a little fragment of muscle may be cut. Muscular dystrophies and other muscle disorders may be distinguished by analysing tissue samples.
• Checks to monitor the heart's activity (electrocardiography and echocardiogram). These procedures are used to check cardiac function in people who have myotonic muscular dystrophy (MMD).
• Checks to check the health of the lungs. Lung function is tested with these checks.
• EMG. In order to measure the tendon, an electrode needle is placed into it. As you relax and gently tighten the muscle, the electrical activity is recorded. A muscle condition may be confirmed by changes in electrical activation patterns.
Medical care
While there is no remedy for muscular dystrophy, medication for certain types of the condition may help prolong a person's mobility and improve heart and lung muscle power. New drug trials are also underway.
Muscular dystrophy patients can be followed for the rest of their lives. A neurologist who specialises in neuromuscular disorders, as well as a sports therapy and recovery consultant and physical and occupational therapists, may be on their treatment team.
A pulmonologist, a cardiologist, a sleep specialist, an endocrine system specialist (endocrinologist), an orthopaedic surgeon, and other specialists might be needed for certain patients.
Medication, physical and occupational rehabilitation, as well as medical and other treatments, are also available as treatment alternatives. The medical staff will change therapies as the illness advances by continuously assessing pacing, chewing, coughing, and hand movement.
Drugs
Your physician can suggest:
• Corticosteroids including prednisone and deflazacort (Emflaza), which may improve muscle development and slow the development of some forms of muscular dystrophy. However, long-term usage of these medications can lead to weight gain and weakening bones, which raises the likelihood of fracture.
• Eteplirsen (Exondys 51), the first treatment authorised by the Food and Drug Administration (FDA) directly to help certain patients with Duchenne muscular dystrophy, is one of the most recent medications. In 2016, it was adopted on the basis that it be implemented.
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