Duchenne Muscular Dystrophy
Duchene Muscular Dystrophy is a genetic disorder that is distinguished by progressive muscle degeneration and weakness. This genetic disorder is cause by an absence of Dystrophin .
The onset of symptoms begin early in childhood between the age of three and five. This disease primarily affects males, but in some rare cases it has also affected females.
What are the symptoms?
As early as three the signs of muscle weakness begin to appear. The first muscles to be affected are the hips, pelvic area, thighs, and shoulders. Later on the voluntary skeletal muscles in the arms, legs, and trunk areas are affected. The calves of those affected are usually enlarged. The heart and respiratory system are affected beginning …show more content…
Researchers identified a specific gene on the X- chromosome, that when mutated lead to DMD. This discovery happened in 1986. A year later the protein associated with this gene was identified and was given the name dystrophin. The lack of this protein causes muscle cells to be fragile and damage easily.
Who carriers this gene?
This dystrophy has an X- linked recessive inheritance pattern when passed on by the mother. A mother who carriers this gene is known as acarrier. The mothers that carry this gene have a normal dystrophin gene on the X- chromosome and an abnormal one on the other X-chromosome. Almost all of the carriers of DMD do not show signs of the disease. If signs are present, the symptoms vary from mild skeletal muscle weakness and cardiac involvement to severe muscle weakness and cardiac effects that start in childhood or even adulthood.
Life expectancy
In the past, males with DMD usually did not survive past their teen years. Advances in cardiac and respiratory care greatly increased the chances of survival. With the life expectancy drastically increasing, many young adult males that have DMD go on to attend college, get married, have children, and even have careers. Some are living life well into their late thirties and some even into their late