The diagnosis of MD, along with the severity, and the specific type is of immense importance. Once the type and severity of the disease is figured out, the team of caregivers formulate a plan of treating the patient and improving the patient’s quality of care. The first step for a diagnosis is a thorough physical examination by a doctor. Early and overall physical signs of MD will vary due to which specific dystrophy is present. The simplest early physical finding is generalized weakness that starts proximal and spreads distally. An exception is made for a few rare forms of dystrophy such as fasioscapulohumeral dystrophy (FSHD), where symptoms always start at the face accompanied by more distal weakness of extremities 4. Often the examining
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There is not just one blood test done for MD, but two. Both tests can be done from the same sample drawn from the patient. One test is performed for estimation of the creatine kinase level, and the second is for DNA studies. If the muscle fibers are deteriorating, then the enzyme creatine kinase will be released more often. An elevated level of creatine kinase is a sign of multiple forms of MD such as: Duchenne, Limb Girdle, Emery-Dreifuss, and faciosculohumeral dystrophy. The DNA test is usually used to notify the examiner if any mutated gene is present or any gene is absent. This can lead to an impartially accurate diagnosis with Duchenne and Becker dystrophy due to the specific mutated gene being known. While muscles are being used they can produce minor quantities of electricity. An EMG can detect these amounts of electricity generated by muscles and project them visually on a screen so the medical professional can visually see. This tool is an essential in helping diagnose neuromuscular disorders. What is displayed on the screen while the muscle is being used is called “action potential.” A patient with MD will have a relatively lower action potential than people with normal muscle integrity. One thing to remember is that either a person with a MD as well as a person that does not have it has no action potential while the muscle is not
There is not just one blood test done for MD, but two. Both tests can be done from the same sample drawn from the patient. One test is performed for estimation of the creatine kinase level, and the second is for DNA studies. If the muscle fibers are deteriorating, then the enzyme creatine kinase will be released more often. An elevated level of creatine kinase is a sign of multiple forms of MD such as: Duchenne, Limb Girdle, Emery-Dreifuss, and faciosculohumeral dystrophy. The DNA test is usually used to notify the examiner if any mutated gene is present or any gene is absent. This can lead to an impartially accurate diagnosis with Duchenne and Becker dystrophy due to the specific mutated gene being known. While muscles are being used they can produce minor quantities of electricity. An EMG can detect these amounts of electricity generated by muscles and project them visually on a screen so the medical professional can visually see. This tool is an essential in helping diagnose neuromuscular disorders. What is displayed on the screen while the muscle is being used is called “action potential.” A patient with MD will have a relatively lower action potential than people with normal muscle integrity. One thing to remember is that either a person with a MD as well as a person that does not have it has no action potential while the muscle is not