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Muscular Dystrophy / Duchenne Muscular Dystrophy - Clinical Features

Clinical Features

  • The symptoms of the disease manifest before 5 years of age.
  • Earliest signs of DMD include developmental delay in talking and walking.
  • This is followed by progressive weakening and muscle wasting, more specifically muscles of the thigh and pelvis.
  • The victim has trouble related to walking up the stairs or rising from chairs.
  • There is a noticeable thickening of the calf muscles over a period of time.
  • With progressive involvement of the muscles of the trunk, shoulder and back, a typical 'swayback' posture can be seen.
  • The child finds it difficult to balance himself and falls over a number of times. The child soon begins to walk on his toes owing to contraction of the heel cords.
  • The elbows, knees, hips and spine are affected as the disease progresses, resulting in scoliosis (curvature of the spine).
  • The affected individual is confined to wheelchairs before 12 years of age.
  • Although most patients have normal levels of intelligence, signs of mental retardation may be seen in a small percentage of the cases.
  • The muscle of the heart and lungs are also affected, leading to death from either respiratory or cardiac failure.
  • Once the muscles of the diaphragm become involved, the patient finds it difficult to breathe and is dependent on a ventilator/ respirator for breathing support.

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