Please remember to post both entry and reply with at least 300 words. Muscular d

Question

Please remember to post both entry and reply with at least 300 words.

Muscular dystrophy (MD) is a fairly common inherited muscular disorder which presents itself in nine different variants. Pick a variant that interests you and assume the role of a research scientist who is applying for grant money to fund research on this form of MD. There are numerous ongoing avenues of research pertaining to muscular dystrophy, whether to discover a cure, enhance treatments, or simply to provide us with a better understanding of how this disease functions so that we may eventually find our way to a cure.  

For your entry, address the following points:

1) list and describe your form of MD, including causes, symptoms, treatments, life expectancy, and its frequency in the population (5pts).

2) Describe the particular area of research that you would investigate (drug-based therapies that would slow the loss of muscle tissue, tissue repair/regeneration, gene therapy, etc.) and provide valid scientific reasoning as to why this area of research is worth the investment of funds. (20pts)

Explanation / Answer

Muscular Dystrophy (MD):

MD is a group of heriditary muscular disorder, the condition in which there is a gradual decrease in the weakening of the skeletal muscles and decreasing the muscle mass, thereby disturbing the voluntary muscle actions/movements in the body. They may sometimes affexts the body organs also.

There are nine major forms of muscular dystrophy:

The one form of MD we are interested here is Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a genetic disorder caused by the absence of a protein called ditrophin, that helps to keep muscle cells intact.

Causes:

Researchers identified when mutation occurs at a particular gene on the X chromosome, leads to DMD. The protein associated with this gene was identified and named as dystrophin. Lack of this dystrophin protein in muscle cells causes them to be fragile and easily damaged.

Symptoms:

There will be the gradual weakening of the muscles which can be seen as early as age 3. First it affects the muscles of the hips, pelvic area, thighs and shoulders, and later the disease spreads to the skeletal muscles and reduces the voluntary movements in the arms, legs and trunk. The heart and respiratory muscles will be affected by the teenage.

Treatments:

There is no cure for DMD, but there are some alternatives like medicines and other therapies that can protect muscles, and keep heart and lungs healthy.

Eteplirsen (Exondys 51) is an injection medication that helps to treat individuals with a specific mutation of the gene that leads to DMD and it has been proved. The most common side effects are balance problems and vomiting. Although the drug increases dystrophin production, which would predict improvement in muscle function, this has not yet been shown.

Prednisone, a steroid slows muscle damage. Children who take this medicine are able to walk for 2 to 5 years longer than they would without it. The drugs also can help child’s heart and lungs work better.

Life expectancy:

Until recently, boys with DMD usually did not survive much beyond their teen years (1-20 years). With special advancements in the research and technology in case of cardiac and respiratory care, life expectancy of the children with DMD has increased. Survival into the early 30s has become more common, and there are certain cases that now a days men with DMD are living until 40s and 50s.

Frequency:

The frequency in the population of DMD is 1 in 3500 boys.

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