Muscle Dystrophy

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Deffinition

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

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genetic disease. Those who inherit it have a defective gene related to a muscular protein called dystrophin. This protein keeps muscle cells intact.

prevention?

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some forms can be prevented. For example post Polio Syndrome (a condition of muscle weakness that develops in adulthood in patients that had polio as a child) can be prevented by vaccinating children against polio. If a family knows that they have a family history of certain types of muscular dystrophy, Genetic information and counseling can give people insight as to whether they are at risk to have children with this genetic disease. People can also learn about what medications or toxins may lead to damage of the nerves and avoid these. However, there are also muscular dystrophies that cannot be prevented because their causes are unknown.

symptoms and effects

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Signs and symptoms typically appear between the ages of 2 and 3, and may include:

  • Frequent falls
  • Difficulty getting up from a lying or sitting position
  • Trouble running and jumping
  • Waddling gait
  • Walking on the toes
  • Large calf muscles
  • Muscle pain and stiffness
  • Learning disabilities

detection

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Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and tests. These might include: A muscle biopsy (the removal and exam of a small sample of muscle tissue) DNA (genetic) testing.

treatment

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There's no cure for any form of muscular dystrophy. But treatment can help prevent or reduce problems in the joints and spine to allow people with muscular dystrophy to remain mobile as long as possible. Treatment options include medications, physical therapy, and surgical and other procedures.