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An 18-Year-Old Male with Slowly Progressive Weakness 

An 18-Year-Old Male with Slowly Progressive Weakness
An 18-Year-Old Male with Slowly Progressive Weakness

Jeffrey A. Cohen

, Justin J. Mowchun

, Victoria H. Lawson

, and Nathaniel M. Robbins

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date: 17 June 2021

Slow progression of proximal weakness in an adult may suggest Becker muscular dystrophy, but limb-girdle muscular dystrophy needs to be considered. This chapter discusses a diagnostic approach that includes the utility of ever-evolving genetic tests. Electromyography is helpful in cases of suspected muscular dystrophy without a family history, if creatine kinase levels are low, or in evaluation of possible female carriers for BMD who are symptomatic. Management considerations are also outlined. A muscular dystrophy clinic with a multidisciplinary approach is helpful for coordination of care. A consult from a clinical geneticist is often very helpful.

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