What is Duchenne Muscular Dystrophy – Symptoms and Treatment
Duchenne muscular dystrophy is a disease which affects one in 3000 young boys. The disease is has no known cure as of now.
In a recent development, experts at the School of Biological Sciences, the Royal Holloway, University of London have reported of making progress in the treatment of this condition using Gene Therapy. The results of their study are published in the February 2011 issue of the journal Molecular therapy.
The disease is an inherited disorder in males and its symptoms become apparent by the age six or even early. There is rapid progression of the weakness in muscles, leading to immobility, paralysis and ultimately it leads to death by the age of 25 owing to lung disorders.
During pregnancy, the condition can be detected with 95 percent accuracy through genetic tests. As life after its diagnosis is difficult, awareness of the signs might help in finding the condition early, increasing the effectiveness of the available treatments. These signs are:
Duchenne Muscular Dystrophy Symptoms:
- Progressive muscle degeneration
- Frequent falls
- Gait problems
- Enlarged muscles
- Difficulty in descending stairs
- Difficulty in climbing stairs
- Waddling gait
- Difficulty in standing up
- Firm looking muscles
- Enlarged calf muscles
- Lordosis – Technical term used to describe inner curvature of the spinal cord
- Progressive muscle weakness
- Progressive spinal curvature
- Wasted trunk muscles
- Wasted pelvic muscles
- Wasted shoulder muscles
- Wasted thigh muscles
- Wasted arm muscles
- Cardiomyopathy – Deterioration in the functioning of the muscles of the heart
- Intellectual impairment
- Joint contractures
The patient by the age of 10 might require braces to walk and unfortunately can get confined to a wheel chair by the age of 12.
Biopsy of the muscles, Electromyography (EMG), genetic tests and serum CPK are some of the diagnostic tests available to find the above mentioned signs. The primary aim of the treatments is to curb these symptoms and improve the quality of life of the patients.
Duchenne Muscular Dystrophy Treatment:
Physical activity can help in slowing down the degeneration of the muscles. Physiotherapy techniques like massages can keep in the sensations in the muscles available for long.
Research studies in Gene therapy are showing promising results in recent times. Means to replace the damaged muscles of this condition would be hopefully available in the near future soon.