Duchenne muscular dystrophy (DMD) is a genetic illness characterized by progressive muscle degeneration and weakening caused by mutations in a protein called dystrophin, which aids in the maintenance of muscle cells.
DMD is one of four dystrophinopathies (conditions characterized by a lack of dystrophin). Becker Muscular Dystrophy (BMD, a mild form of DMD); an intermediate clinical presentation between DMD and BMD; and DMD-associated dilated cardiomyopathy (heart disease) with little or no clinical skeletal, or voluntary, muscle illness are the other three disorders in this category.
Causes
DMD develops when a faulty DMD gene fails to create any functional dystrophin.
Female carriers of an X-linked ailment have a 25% chance of having a carrier daughter like themselves, a 25% risk of having a non-carrier daughter, a 25% chance of raising a son afflicted by the disease, and a 25% chance of having an unaffected son with every pregnancy.
If a man with an X-linked illness can procreate, he will pass the faulty gene on to all his daughters who will be transmitters. A man cannot convey an X-linked gene to his children since males always pass their Y chromosome to male offspring instead of their X chromosome.
Signs and Symptoms
Typical signs and symptoms that occur in early infancy include:
Falls that occur frequently
Difficulty getting out of laying or sitting posture Difficulty sprinting and leaping
The waddling gait
Taking a walk on your toes
Large calf muscles
Muscle stiffness and discomfort
Disabilities in learning
Growth has been slowed.
Risk factors
Being underweight as indicated by the BMI
Having impaired lung function
A high blood concentration of a protein related to heart damage
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