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:
- Basic Human Genetics - Elaine Johansen Mange & Arthur P. Mange
- Medical Genetics - Lynn B. Jorde, John C. Carey, Raymond L. White
- Muscular Dystrophy - (http://www.nlm.nih.gov/medlineplus/musculardystrophy.html)
- Muscular Dystrophy Information Page - (http://www.ninds.nih.gov/disorders/md/md.htm)
Published on Apr 01, 2008
Last Updated on Apr 30, 2016
