Muscular dystrophy

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…

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…

functions but also their lifespan. As a result, the degradation of NADH by a toxic drug can lead to reduced levels of ATP causing various neurodegenerative diseases, such as Parkinson’s disease and Alzheimer’s dementia, autoimmune disorders, muscular dystrophy and even death.…

A 13-year-old male is brought to his pediatrician for evaluation. The parents are concerned after the patient’s swim coach noticed that the patient’s chest “does not look normal.” Upon questioning, the patient has no particular complaints. However, during a review of systems, he admits to some recent blurring of his vision, requiring him to sit in the front of his classes. On exam, he is noted to have a tall stature with long limbs. He is able to hyperextend the elbows and can flex his fingers…

This month I listened to an episode of the radio show This American Life titles “Something Only I Can See.” It focuses on how often times one will feel they are the only ones who can see something. As a teenager I occasionally will come across this problem. Often times, I will have a friend that becomes involved with a new romantic partner. I may immediately recognize this new person to be a degenerate with, at best, questionable motivation, but my friend may be blind to this. Getting my friend…

Muscle-Eye-Brain Disease Muscle-Eye-Brain Disease, also known as “MEB” and “Congenital Muscular Dystrophy.” Muscle-Eye-Brain Disease is a rare disease, discovered in 1977, in Finland, but it's unknown who discovered the disease. Finland has the largest number of Muscle-Eye-Brain disease patience and is rare in many other countries. Muscle-Eye-Brain Disease is an inherited condition, form of muscle weakness is present or develops after birth. The infant then feels floppy in the muscles also in…