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.

References:

1. Basic Human Genetics - Elaine Johansen Mange & Arthur P. Mange
2. Medical Genetics - Lynn B. Jorde, John C. Carey, Raymond L. White
3. Muscular Dystrophy - (http://www.nlm.nih.gov/medlineplus/musculardystrophy.html)
4. Muscular Dystrophy Information Page - (http://www.ninds.nih.gov/disorders/md/md.htm)