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Epidemiology of DMD Disease

Duchenne Muscular Distrophy (DMD) is a genetic disorder that occurs in 1 in 3,600 to 6,000 males. It causes a gradual wasting and weakness of muscles over time.

  1. Causes

    • DMD is caused by genetic mutations on one of the female parent's X chromosomes. The mutated gene does not make an important protein called dystrophin. Fifty percent of male infants of mothers who carry the defect have DMD disease, while females who inherit the defect are either disease-free or have mild symptoms.

    Symptoms

    • The first symptoms of DMD usually appear between the ages of two and three years. It starts with weakness in the torso that spreads to legs and arms. Children with DMD often have difficulty performing physical activities such as walking up steps, running, jumping, and getting up from squatting or sitting.

    Other Problems

    • DMD can also affect the heart, lungs, and intellectual development.

    Diagnostic Tests

    • Diagnosis of DMD disease is made by taking a detailed medical history and conducting a thorough medical examination. Blood tests measure the patient's creatine kinase (CK) level, which is an enzyme that is elevated when muscles are being destroyed. Muscle biopsies help physicians make a specific diagnosis.

    Treatment

    • DMD disease is primarily treated with steroids such as prednisone. Spinal curvatures are treated with braces, or in more severe cases, surgery. Joint contractures, or stiffening, can be prevented with regular physical therapy. Leg braces can help with physical activities such as standing or walking. A diet rich in vitamin D and calcium is important to maintain the child's bone density.

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