INFORMATION ON DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy is one of the diseases and disorders that affect the human muscle system. Because muscles and nerves supplying muscle operate as a functional unit, disease of both systems results in muscular atrophy and paralysis. Duchenne muscular dystrophy is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body.

SYNONYMS OF DUCHENNE MUSCULAR DYSTROPHY

Synonyms are as under:
1. Muscular Dystrophies.
2. Myopathies.
3. Myotonic Dystrophy.
4. Myasthenia Gravis.
5. Periodic Paralysis.
6. Post Polio Syndrome.
7. Reflex Sympathetic Dystrophy.
8. Refsum's.
9. Spinal Muscular Atrophy.
10. Stiff-Person Syndrome.

CAUSES OF DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy is caused by incorrect or missing genetic information that prevents the body from making the proteins it needs to build and maintain healthy muscles. Duchenne muscular dystrophy is inherited in an X-linked recessive pattern. It generally appears from age three to six years and worsens rapidly.

SYMPTOMS OF DUCHENNE MUSCULAR DYSTROPHY

Symptoms of Duchene muscular dystrophy are:
1. Muscle weakness.
2. Rapidly progressive.
3. Difficulty with motor skills.
4. Progressive difficulty walking.
5. Fatigue.
6. Skeletal deformities.
7. Chest and back.
8. Muscle deformities.
9. Contractures of heels, legs.
10. Gait problems.
11. Waddling gait.
12. Difficulty standing up, climbing stairs, descending stairs.
13. Firm-looking muscles.
14. Enlarged muscles.
15. Enlarged calf muscles.

DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY

A serum CPK is highly elevated. Neurologic exam demonstrates weakness and lack of coordination or balance. Electromyography shows that weakness is caused by destruction of muscle tissue rather than nerve damage. Muscle biopsy confirms the diagnosis.

TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY

There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life. Gene therapy may become available in the future. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances may improve mobility and the ability for self-care.