What Is Muscular Dystrophy

Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers

Credibility Statement: According to the "Muscular Dystrophies" by Harvey B.Sarnat in Nelson Textbook of Pediatrics, 20th Ed 2016, "A muscular dystrophy is distinguished from all other neuromuscular diseases by 4 obligatory criteria: It is a primary myopathy, it has a genetic basis,

Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

The tell- tale sign of muscular dystrophy is the weaking of muscles caused by loss of muscle mass. Different signs can occur in different age groups,

Duchenne Muscular Dystrophy shows its first symptoms in a boy’s early childhood, usually in preschool. The weaknesses of the skeletal and muscular systems start in the pelvis and progress

Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder that is caused by mutations in the gene DMD, which encodes the muscle protein, dystrophin. Dystrophin protein is crucial to preserve the strength, stability, and flexibility of muscle fibers, which protects them from injury as they contract and relax. The DMD gene is primarily located in skeletal and cardiac muscle. Duchenne Muscular Dystrophy is caused by mutations in the gene that produce premature stop codons. The premature stop codons work to bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctional form of dystrophin (Pierce, 2013, pg. 286). According to the Muscular Dystrophy Association (2016), “Individuals with DMD experience rapid progressive

When looking at a potential therapy or cure, it is important to recognize exactly how the disease affects the body. Duchenne Muscular Dystrophy (DMD) is one of the most severe myopathies, or muscle diseases (Cacchiarelli et al). To be diagnosed with DMD, a patient must have a mutation in the dystrophin gene present (Muscular Dystrophy Association). Moreover, that mutation in the gene is what causes the lack of dystrophin synthesis. Dystrophin is protein in the body that keeps the muscles intact (Muscular Dystrophy Association). Therefore, a lack of dystrophin causes the muscles to deteriorate; which is identified as dystrophy. When the body lacks strong healthy muscle, it does not only become weak; the body itself begins to shut down. Our organs depend on the muscles that allow us to walk, eat, and breathe to provide energy, nutrients, and oxygen. For this reason, DMD eventually leads to a short life.

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.

Duchenne muscular dystrophy has a worldwide distribution, with a mean incidence of 1 per 3,500 male births (Clinical Pediatric Neurology, Pg. 180). The children lead a life ridden with difficulty and physical pain. While kids their age are seen running around playing, these boys rapidly loose functional use of their limbs. There are also many other problems associated with muscle wasting. To be sure that the child has the disease a muscle biopsy is usually done to check for dystrophin levels and confirm that the child does have DMD and not another disorder. Deterioration of

Duchenne Muscular Dystrophy is diagnosed from many symptoms in many ways. Since the disorder is most likely going to be inherited, doctors will look at the medical history of the family. Once the background of family history is done, a physical examination of the patient will occur. The examinations are done in various ways. One of the first examinations that physicians do would be the CK ( creatine kinase) level blood test. Creatine Kinase is an enzyme that disclosures out damaging muscles. “The normal upper limit of serum CK is 200 units/L; in patients with DMD, levels are 5,000 to 15,000 units/L” (Sussman, 2002). If the results of the CK blood test come back high this concludes that the muscles have damaging occurring causing the

Duchenne Muscular Dystrophy is one of the nine types of muscular dystrophy and the most known, it’s a genetic disorder distinguish by ongoing muscle degeneration and weakness. DMD is cause by a mutation on the X chromosome that stops the production of dystrophin, which is a normal protein in muscles.

According to Medical News Today, muscular dystrophy is a disorder that is characterized by the progressive loss of muscle mass and consequent loss of strength(Newman). There are specific causes that effect the body, and thus creates certain symptoms that are noticeable initially, and symptoms that occur later on in the process. I will be discussing the causes, symptoms-both initial and later, diagnosis, treatment, and prognosis. In order for one to be classified as having muscular dystrophy, there are certain causes that are very unique to this disorder. First off, though let me say that there are different types of muscular dystrophy, which are: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal,

Emery-Dreifuss Muscular Dystrophy (EDMD) - This is 1/9 types of muscular dystrophy, these diseases mainly affect your voluntary muscles. It’s named after Alan Emery and Fritz Dreifuss, physicians who first described this disease in the 1960s. EDMD is caused by gene mutations that cause the produce of proteins in the nuclear membrane of each muscle cell. Also it can be inherited in a number of ways, but each inheritance pattern usually has the same symptoms. EDMD usually shows itself by the age of 10 and it’s described as the wasting and weakness of muscles making up your shoulders, upper arms, and calf muscles of legs. Another major EDMD aspect is appearance of contractures (stiff joints) in the elbows, neck, and heels early in the disease’s

The first historical account of MD was reported by Conte and Gioja in 1836. It described two brothers with progressive weakness starting at age ten. The boys later developed generalized weakness and hypertrophy of multiple muscle groups, which are now known to be characteristic of the milder Becker MD. At the time of discovery Conte and Gioja described tuberculosis thus the reason they did not achieve recognition for their discovery (emedicine.medscape.com). It was discovered that the disorder is genetically transmitted through females and affects only males.