What Are Muscular Dystrophy?

Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

According to the " Muscle Diseases" by Patrick F.Chinnery in the Goldman's Cecil Medicine, 24th Ed 2012, "Duchenne Muscular Dystrophy affects about 1 in 3500 males. About one third of the cases arises from a de novo mutation without a family history."

Duchenne Muscular Dystrophy is also the most common type of muscular dystrophy in kids, children who are affected by the disease will most likely be in a wheelchair by the time they are 12, and are likely to die anywhere from their late teens to early twenties ( Yiu and Kornberg, 2008, p. 236).

Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are

Duchenne muscular dystrophy is a gender-linked inherited disorder. To illustrate, males only have one X chromosome, therefore they do not have a second X chromosome to make up for the damaged gene. Females can only become carriers of the disease, as females have a second X chromosomes to make up for the damaged gene.

Ben has Duchenne Muscular Dystrophy (DMD). DMD is a degenerative disease of the muscles. When someone has this disease their muscles do not produce enough dystrophin to stay together. This causes the muscles to deteriorate over time. With proper care, the rate of muscle degradation can be slowed down. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. Muscle weakness can start as early as age three. It first affects the hips, pelvic area, thighs, and shoulders. This disease is still fatal and will be until further studies and research are done to find ways to cure this disease.

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Muscular dystrophy can be diagnosed with a physical exam and diagnostic testing completed by the child’s pediatrician. Additional information that will be obtained during the examination will be family history, pregnancy history, and birth history. Diagnostic studies for muscular dystrophy include muscle serum enzymes (especially creatine kinase), electromyogram (EMG) testing, muscle fiber biopsy, electrocardiogram abnormalities reflective of cardiomyopathy, and genetic pedigree (Lewis, 2011). Duchenne muscular dystrophy is caused by the lack of dystrophin. A muscle biopsy can be done to confirm a diagnosis of muscle dystrophy. The biopsy will show evidence of significant fat and connective tissue deposits, deterioration and necrosis of muscle fibers, and a lack of the muscle

Muscular Dystrophy (MD) is a disease that can be defined as a group of genetic traits that includes deteriorating by the voluntary muscular and/or skeletal movements. Other organs such as the heart are another example of an involuntary muscle that can easily be affected by the disease. Muscular Dystrophy can effect anyone - child or infant, and even middle age to older adults. The overall severity of the disease depends on when it decides to show up. Some factors are simply the age of the individual, the current condition or strength of their muscles, how fast the disease progresses, and as well genes. Most do are not fully aware of the severity of the disease, nor do they know that there are nine different types out there. Some types of Muscular Dystrophy affect males.

What is Muscular Dystrophy, or MD for short. Muscular Dystrophy is a hereditary disease that effects the muscles which controls movement weaken overtime, and in some cases will affect the heart and other organs. Symptoms can show up in those as young as infants and can stay in those in the middle ages or older. There are nine major forms of MD including: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss. The form and severity vary by the age that MD occurs. Some types of MD will affect mostly males, while some people with MD will enjoy a slow progression with mild symptoms, but on the otherhand, others will experience swift and severe weakening, dying in their late teens and early 20’s. More than 50,000 Americans are affected by various types of MD.

The main signs of muscular dystrophy are progressive muscle weakness, trouble breathing or swallowing and losing the ability to walk. Specific signs and symptoms begin at different ages and in different muscle groups, and also it depends on the type of muscular dystrophy. For example, Duchenne muscular dystrophy, about half of people with muscular dystrophy have this variety or diversity. Although girls can be carriers and mildly affected, the disease typically affects boys. Signs and symptoms typically appear between the ages of 2 and 3, and may include frequent falls, difficulty getting up from a lying or sitting position, trouble running and jumping waddling gait, walking on the toes, large calf muscles, muscle pain and stiffness, and learning disabilities.

There are over 30 types of Muscular Dystrophy. I am only going to discuss a few of the most common kinds. The first one I am going to discuss is the most common type and the most severe type of Muscular Dystrophy, Duchene Muscular Dystrophy (DMD). This type of MD affects mostly boys between the ages of 3 and 5 and accounts for over 50% of all cases. This deficiency is caused by a lack of dystrophin, a protein that helps reinforce muscle fibers and shield them from injury. This type of disease progresses very fast and by the age of 12 most can’t walk. Some of the signs you might see in an individual with this disease are falling down, trouble getting up from lying down or sitting position, and a swayed gate. As the disease further progresses they will need to be placed on a respirator which can lead to complications and by their early 20’s most pass away (5).