M USCULAR D YSTROPHY By: Collin Lowe

C AUSES Muscular Dystrophy is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome and is thus considered sex-linked. In males, who have only one X chromosome, one altered copy of the gene in each cell is all it takes to cause the condition. In females, who have two X chromosomes, a mutation must be in both copies of the gene to cause the disorder. Males are therefore affected by Muscular Dystrophy much more often than females. Genotypes and Abnormalities Genotypes: XrXr or XrY Abnormalities: The abnormality that causes muscular dystrophy is contained within chromosome 4. A genetic abnormality is essentially defined as a mutation in DNA, the natural substance that forms genes and chromosomes. In the case of a genetic DNA abnormality, the chromosome is normal, but the DNA inside of it is not. Genetic abnormalities

Chance for Offspring If the mother has the disorder and the male dose not, then a boy would have the disorder, but a girl would not. If the mother carries the gene but does not have the disorder and the father does not have the gene, then a girl would not have the disorder, but a boy would have a chance of having the disorder. If the father has muscular dystrophy and the mother does not even carry the gene, then no-mater a boy or a girl neither will have the disorder. If the mother carries the gene but does not have the disorder and the father has the disorder, then both a girl and a boy would have a chance of having the disorder.

S YMPTOMS Progressive muscular wasting Poor balance Drooping eyelids Gonadal Loss of bladder control Scoliosis (curvature of the spine) Inability to walk Frequent falls Waddling gait Calf deformation Limited range of movement Respiratory difficulty Life Expectancy The life expectancy (in other words, how long a person may live) for many of these forms of muscular dystrophy depends on the degree to which a person's muscles are weakened as well as how much the heart and lungs are affected.

D IAGNOSIS A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy. Treatments There is no known cure or treatment for people with muscular dystrophy. Often the only help that can be given is therapy to ease the mind, drug, and physical therapy which can hopefully slow the process and build small amounts of muscle back. There are types of surgery's that cane be done, but none of them can cure the disorder.

T REATMENT R ESEARCH Over the last several years, a mini-dystrophin gene has proven successful in animal models of Muscular Dystrophy. This is a type of gene replacement therapy where they intend to put a mild case in the place of the current disorder. It has proven successful in animal trials, but has yet to be tested on a human. The muscle cells of Muscular Dystrophy patients often lack an important protein, such as dystrophin. Scientists are exploring the possibility that the missing protein can be replaced by introducing muscle stem cells, capable of making the missing protein in new muscle cells. Such new cells would be protected from the degeneration characteristic of Muscular Dystrophy and potentially restore muscle function in people with the disorder. Skeletal muscle has the ability to repair itself, but its regeneration and repair mechanisms are depleted during the course of several types of Muscular Dystrophy. Understanding the repair mechanisms may provide new therapies to slow, and stabilize, muscle degeneration.

W HAT IS L IFE L IKE WITH MD Most people with muscular dystrophy realize that the have the disorder, and understand the hardships they will face, but often they are ok. They still have all five of there senses and have a full train of thought. Many other disorders take some of these away from you, so for many people with MD it is just a speed bump in life. Now of coarse there are the extremely serious cases, where the person may not feel the same way, but these are rare conditions. Muscular Dystrophy affect 1 in 3,500 to 5,000 newborn males. Between 400 and 600 boys in the United States are born with these conditions each year. Females are rarely affected by these forms of muscular dystrophy. Prevalence

L IMITATIONS People with Muscular Dystrophy struggle with, quick fatigue and weakness. This makes it hard to participate in social activities for long periods of time. They struggle with motor impairments, making it extremely difficult to type and wright due to the lack of grip. Some severe cases have a hard time even getting around, or talking which can make life very difficult for someone with muscular dystrophy. Help Organizations c/shc29mus.htmhttps:// c/shc29mus.htm

B IBLIOGRAPHY ml# ml# Possibility of a Cure The aspect of a cure is getting closer, but we still have a while before any major findings are made. Through research scientists have found the starts of treatments to aid people with muscular dystrophy, but a cure is still in the making for a later date.