Muscular Disorders Case Report Essay

Case A mother presents with her 13 y/o son with a score of ordinary falls, difficulty getting up from a lying or sitting position, touch jumping, large calf vigours and poor grades in school. Based on the description and symptoms given, the apt(predicate) diagnosing would be Duchennes sizeable hefty dystrophy, or DMD although DMD and its symptoms tend to show up at an earlier age scarce not always. This type of muscular dystrophy is the most common and severe appoint of the dystrophinopathic complaints.Dystrophinopathic indispositions are muscular dystrophies that are of a genetic nature ca utilise by a deficiency in the protein dystrophin. This protein is vital to heftiness function and contraction. In the case of DMD, in that respect is a play in the gene, called the DMD gene, credi 2rthy for producing dystrophin causing a deficiency. This gene mutation is X-linked recessive and is inherited. This means that females in the family use up the gene mutation and derrie re operate is on to their offspring male or female, but it is expressed in the males. DMD is commonly diagnosed when a young boy shows signs of tendon weakness and there is a family history of the disease. Per Genome (2010), a muscle biopsy for dystrophin studies can alike be d hotshot to look for affected levels of dystrophin in the muscle. Genome (2010), also states that genetic interrogatory on a blood warning for changes in the DMD gene can assistant establish the diagnosis of Duchennes muscular dystrophy without performing a muscle biopsy. For most individuals, a combination of these examination methods is used to confirm a diagnosis of DMD. There is no known recruit for DMD. Treatment involves treating the symptoms and keeping the patient as comfortable as possible. Medline (2012) says that steroid drugs can slow the loss of muscle durability and may be started when the child is diagnosed or when muscle strength begins to decline. Other drugs, such(prenominal) as Albu terol, can be used to come across breathing problems that occur in the later stages of the disease and drugs to help with titty functions are prescribed to help control any cardio symptoms that may be present. The prospect for individuals with DMD is bleak it is a rapidly state-of-the-art disease and patients with DMD usually surrender to the disease or complications from it in their 20s or 30s, sometimes eve earlier. I grew up with a family conterminous door to me in which the two oldest boys had DMD. The disease lastly took both of their run shorts. The oldest boy did livelong enough to graduate from advanced school but the younger of the two died from complications when he was 16. It was horrible 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 get been great strides in the field of explore in regards t o DMD but as of further no cure has been found. Hopefully one day, there will be a cure for this devastating, debilitating disease and no more families will be forced to watch their children die right in the beginning their eyes.