Muscular dystrophy

granted to him. The Make-A-Wish Foundation and the 76ers invited Marquan and his family to see a live game courtside for the first time. Simmons and Embiid greeted and shared words of encouragement with Marquan, who was diagnosed with Becker's muscular dystrophy in 2010. The teen also got to meet his favorite player in Simmons and received a jersey. Furthermore, the Sixers signed the 16-year-old to a 1-day contract, becoming an…

describe the different muscular movements. These terms all describe the upward, downward, inward, and outward movements that humans need to walk, eat, use their hands, elbows, knees and hips. Just as with bones and joints, the musculature is also prone to various injuries and ailments, called pathologies. These include sprains, spasms (which occur when mineral balances of potassium, magnesium and calcium are off), tears, and separations. Muscle diseases include, muscular dystrophy, which is a…

in vitro fertilization and pre-implementation diagnosis. In order to maximize the benefits and minimize the harm, by doing so, even though there is a possibility of having mosaicism, they know for sure that their child would not have Duchenne Muscular Dystrophy, which will affect their child greatly if they have the disease. With 24% pregnancy rate, they can have a child without the disease. Therefore, the benefits in this case would outweigh the risk of having mosaicism that might leads to…

they are times when they should have a reality check and ask themselves if it’s ok whatever they are doing. I have my pros and cons about this ¨fixing DNA.¨ I agree that they should try to find a way to cure diseases such as sickle-cell anemia, muscular dystrophy, and many more hereditary diseases. What I don’t…

In the early 1900s, inherited diseases were first linked to chromosomes. Discoveries starting in the 1950s have helped scientists to develop genetic tests for genetic conditions such as Down syndrome, cystic fibrosis, and Duchenne muscular dystrophy. Genetic testing was initially used to make or confirm a diagnosis of a genetic condition, and to screen newborns for conditions such as phenylketonuria (PKU), so that early interventions and treatments could be administered. The screening of these…

Atypical Development is “any aspect of a child's physical or psychological makeup that is different from what is generally accepted as typical to early childhood” (Allen & Cowdery, 2012, p.81). It is difficult to define atypical development because many people look at it differently. “Children with differences that alter their development often are referred to as “exceptional” or “atypical” (Allen & Cowdery, 2010, p.81). Children who are different either mentally or physically were…

They are diseases that cause weakened and smaller muscles. Varying in types, muscular dystrophy occurs in both genders, but most commonly in young boys. It does not usually affect adults. Some of the symptoms for these sicknesses are recurrent falls, difficulty running or jumping, and muscle pain. Like cystic fibrosis, muscular dystrophy is caused by one defective gene in the human genome. Duchenne is the most common of the diseases. Again, like cystic fibrosis…

team of researchers decided to screen 23 affected individuals for mutations of the Lmna gene. They chose the Lmna gene due to its involvement in a wide spectrum of heritable disorders including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, and Charcot-Marie-Tooth disease (“Lmna”). The decision to screen the Lmna gene definitely paid off, as three different mutations were discovered. The mutations encompassed the substitution of just one…

Growing up, sports were always something I cherished, something I filled a lot of my free time with, and something I used to identified my persona. I have experienced my fair share of injuries from concussions to broken bones and while these things prevented my participation in sports, they intrigued me. In fact, the wholesome health of the human body has always appeared extremely fascinating to me. My love for the anatomy of the human body was uncovered Sophomore year amidst a basic health…

am unnerved by what I see happening, especially in the U.S. Just this week in my brother’s community a fireman was deliberately run over and killed while he was collecting money as part of his departments annual “fill the boot” campaign for Muscular Dystrophy. I see all this and more around me and think, yes, the…