Muscular dystrophy refers to a group of more than 30 genetic (inherited) conditions that affect the functioning of your muscles. In general, the symptoms of muscular dystrophy worsen over time. These conditions are a type of myopathy, a disorder of your skeletal muscles.
Depending on the type, muscular dystrophy can affect your ability to move, walk and perform daily activities. It can also affect muscles that help your heart and lungs function.
Some forms of muscular dystrophy are present at birth or develop during childhood. Other forms develop during adulthood.
What are the symptoms of muscular dystrophy?
The symptoms of muscular dystrophy can vary significantly depending on the type. But the main symptom is muscle weakness and other muscle-related issues. Each type can affect different muscles and parts of your body. Symptoms of muscular dystrophy generally get worse over time.
Muscle- and movement-related symptoms can include:
The symptoms of some types of muscular dystrophy are mild and progress slowly over time as you age. Other types cause more rapid muscle weakness and physical disability.
How is muscular dystrophy managed or treated?
There currently isn’t a cure for muscular dystrophy, though researchers are actively looking for one.
The main goal of treatment is to manage symptoms and improve your quality of life. Treatments can vary depending on the type of muscular dystrophy and may include:
Physical and occupational therapies: The main goal of these therapies is to strengthen and stretch your muscles. They can help you maintain movement function.
Corticosteroids: Corticosteroids, such as prednisolone and deflazacort, may be beneficial for delaying muscle weakness, improving lung function, delaying scoliosis, slowing the progression of cardiomyopathy and prolonging survival.
Mobility aids: Devices such as canes, braces, walkers and wheelchairs can improve your mobility and help prevent falls.
Surgery: People with muscular dystrophy may need surgery to relieve tension on contracted muscles and to correct spine curvature (scoliosis).
Heart care: Early treatment with ACE inhibitors and/or beta-blockers may slow the progression of cardiomyopathy and prevent the onset of heart failure. Pacemakers can also help treat heart rhythm problems and heart failure.
Speech therapy: This can help people who have difficulty swallowing.
Respiratory care: Cough-assist devices and respirators can help with breathing. Tracheostomy and assisted ventilation may be necessary in cases of respiratory failure.
Medications have also been recently developed that may alter the course of certain forms of the disease. Examples include eteplirsen and golodirsen for DMD (Duchenne muscular dystrophy).
How is muscular dystrophy diagnosed?
If you or your child have symptoms of muscular dystrophy, your healthcare provider will likely perform a physical exam, neurological exam and muscle exam. They’ll ask detailed questions about your symptoms and medical history.
If they suspect you or your child have muscular dystrophy, they may recommend any of the following diagnostic tests:
Creatine kinase blood test: Your muscles release creatine kinase when they’re damaged, so elevated levels may indicate muscular dystrophy.
Genetic tests: Certain genetic tests can identify gene mutations that are linked to muscular dystrophy.
Musclebiopsy: Your provider may take a small sample of your muscle tissue. A specialist will then look at the sample under a microscope to look for signs of muscular dystrophy.
Electromyography (EMG): This test measures the electrical activity of your muscles and nerves.
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