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Recent diagnostic advances in muscular dystrophy

      Muscular dystrophies are a group of conditions which result in progressive de and re generation of the muscle fibers. The group contains a wide variety of disorders. A variety of mechanisms are known to result in muscular dystrophies, but cytoskeletal protein changes are seen in majority of patients. Conventionally serum CK, electromyography and muscle biopsy have been used in the diagnostic process. Evaluation of the muscle biopsy has undergone major changes as a result of developments in the field of immunocytochemistry, innunoblotting and enzyme histochemistry. MRI imaging has been gainfully employed in the diagnosis as the changes seem to reflect the pathophysiology and various patterns have been now identified. MRI presently forms a very useful adjunct investigation. Lastly, genetic evaluation has resulted in huge addition of information. Target sequencing has given way to panel testing and whole exome and genome sequencing. these tests have enormous capabilities and have increased the diagnostic yield. The contemporary utility of various tests will be discussed in this presentation.
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