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DUCHENNE MUSCULAR DYSTROPHY (DMD)
About DMD
 
DUCHENNE MUSCULAR DYSTROPHY (DMD) is a genetic disease
in which the muscle of a patient (boy) suffers progressive damage, due to lack of dystrophin protein. It is a long illness in which the muscles of a patient become gradually weaker and it subsequently effects essential mechanism (respiratory system, nervous system, heart etc) of the body leading ultimately to death of the DMD patient during early Twenties (15 + yr.)It only effects boys and has a frequency of about 1:3500 boys at birth. Inheritance
  Inheritance
Inheritance
Causes of DMD
  A boy defected with DMD/ Your Gene Your Health >>Picture>>
  Dystrophin protein is vital for the integrity, strength and proper movement of muscle fiber for which a natural defective dystrophin gene is biologically responsible.When an X -chromosome linked and mutated (defected) dystrophin gene (the gene is on the X-chromosome, girls have two of these ( with only on defective) and boys have only one) is passed from a mother to a newly conceiving baby (son) during the sex-link, the disease causes by birth.
Such women are known as carriers only. Each subsequent son of a carrier has 50:50 chance of being affected and each daughter has a 50:50 chance of being a carrier herself.One out of approximate 100,000 genes in human being is defective which can not produce dystrophin protein.
  Know more about Dystrophin>>
Muscle fibber disorder (progressive damage)
 
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abonormability in dystrophin gene in X chromosome
 
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Mother carries two X-chromosomes with one muted ( defected ) dystrophin gene (X) and can pass to a boy through sex-link.
 
Progression of Duchenne MD
  Typically Duchenne MD is diagnosed between the ages of three and seven, however, the rates of progression and severity of each case is different. There are four stages that are usually associated with Duchenne MD, which a DMD patient has to face in his short life span !:
 
  1. Initial Phase : (diagnosis through age 7: ) Symptoms of DMD:
    • It is the early period of childhood approximately between the age of 2-7 yr. of DMD patients. Following physical health problems are seen.
    • Inconvenience to stand and walk.
    • Abnormal changes can be seen in the physical development due to weakness of muscle strength.
    • Unbalance on the body movement.
    • It is during this early phase that the calves may seem overdeveloped. Pseudophypertrophy, lordisis, postural symptoms like the chest going down and the stomach becoming bigger are seen. The lower front part of the leg is bending downward.

  2. Transitional Phase:
    • Between the ages of 6 and 12, Duchenne MD has usually been diagnosed. Inconveniences faced by the patient can be seen as follows.
    • To get up off of the floor, the boy will often put his rear end up in the air first and then "walk" his arms up his legs with his hands until he is standing; using his arms for supports. The medical term for this is 'Gowers' Maneuver.'
    • In order to compensate for a feeling of falling forward, boys with Duchenne MD will stick their bellies out and throw their shoulders back to keep their balance as they walk.
    • He fells down anytime while running and/or plying. He is unable to stand and walk during 8 to 12 years of age and ultimately is wheelchair bound.

  3. LOSS OF AMBULATION PHASE (8-14 years): By about 12 years old, he will likely need a wheelchair for at least part of the time as mobility becomes more difficult. His weakened muscles will cause him to tire easily. In most cases teen years are when the most significant loss of skeletal muscle strength takes place. It is at this point that activities involving the arms, legs, or trunk of the body will require assistance or mechanical support.
  4. ADULT Phase: curvature of the spine.
    Spline curvature
    • It is the final phase of the total living period of a DMD patient. Its symptoms and difficulties finally lead to the death of a DMD patient in this phase, which are as follows.
    • The patient can not move even his hands from his wheelchair and/or bed due to destruction on the muscle protein and its direct effect on muscle fiber.
    • Develop tightening of the joints or contractures at the hips, knees, ankles, shoulder and elbow.
    • Later there is curvature on the spinal code/scoloisis as well as the leg the turned towards the stomach and no movement on the hands and arms on the bed.
    • Now there starts some problem on the respiratory system, as the muscle has become very weaker on the chest. He is even unable to spit...... cough.The patient is caught of cold and now pneumonia and it quickly effects on the Heart.

      Finally the death is caused by heart failure during the age of Twenties (15 yr. +). Heart complications become the main threat to both health and life due to damage and loss of respiratory muscle. The muscle layer of the heart (called 'myocardium') begins to deteriorate, much like the skeletal muscles do. This puts the boys at risk of a heart attack. Major symptoms of myocardium include: shortness of breath, fluid in the lungs, or swelling in the feet and lower legs (caused by fluid retention).