Muscular Disorders Case Report Essay

Case A mother presents with her 13 y/o son with a report of frequent falls, difficulty getting up from a lying or sitting position, trouble jumping, large calf muscle-builders and poor grades in school. found on the description and symptoms given, the likely diagnosis would be Duchennes goodly dystrophy, or DMD although DMD and its symptoms tend to show up at an earlier years but not always. This type of muscular dystrophy is the most vulgar and severe form of the dystrophinopathic affections.Dystrophinopathic disorders are muscular dystrophies that are of a genetic nature caused by a deficiency in the protein dystrophin. This protein is vital to muscle function and contraction. In the case of DMD, there is a mutation in the gene, called the DMD gene, responsible for producing dystrophin causing a deficiency. This gene mutation is X-linked recessive and is inherited. This agent that females in the family carry the gene mutation and stack pass is on to their offspring male or female, but it is expressed in the males. DMD is usually diagnosed when a young boy shows signs of muscle weakness and there is a family history of the disease. Per Genome (2010), a muscle biopsy for dystrophin studies tramp also be through to look for abnormal levels of dystrophin in the muscle. Genome (2010), also states that genetic testing on a blood sample for changes in the DMD gene can divine service establish the diagnosis of Duchennes muscular dystrophy without performing a muscle biopsy. For most individuals, a combination of these testing methods is used to stomach a diagnosis of DMD. There is no known cure for DMD. interference involves treating the symptoms and keeping the patient as comfortable as possible. Medline (2012) says that steroid drugs can slow the loss of muscle strength and may be started when the kidskin is diagnosed or when muscle strength begins to decline. Other drugs, such as Albuterol, can be used to break breathing problems that occur in th e ulterior stages of the disease and drugs to help with heart functions are prescribed to help control any cardio symptoms that may be present. The prognosis for individuals with DMD is bleak it is a cursorily progressive disease and patients with DMD usually surrender to the disease or complications from it in their 20s or 30s, sometimes even earlier. I grew up with a family next door to me in which the two oldest boys had DMD. The disease eventually took both of their lives. The oldest boy did livelong enough to alum from high school but the younger of the two died from complications when he was 16. It was dreadful for the family to stand by and watch their sons slowly decline and eventually die. This disease continued to plague their lives when the daughters passed it on to their boys and probably still plagues them today. There let been great strides in the field of research in regards to DMD but as of yet no cure has been found. Hopefully one day, there forget be a cure fo r this devastating, debilitating disease and no to a greater extent families will be forced to watch their children die right before their eyes.