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A 20-year-Old Male with Acute Lower-Extremity Weakness 

A 20-year-Old Male with Acute Lower-Extremity Weakness
A 20-year-Old Male with Acute Lower-Extremity Weakness

Jeffrey A. Cohen

, Justin J. Mowchun

, Victoria H. Lawson

, and Nathaniel M. Robbins

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date: 23 June 2021

A metabolic myopathy may be an overlooked etiology of recurrent exercised-induced weakness. This chapter discusses the clinical features and diagnostic considerations for adult patients with suspected metabolic myopathy. Adult patients with carbohydrate or fatty acid disorders typically have a history since childhood of exercise-induced myalgias, cramps, and fatigue. Episodes of myoglobinuria tend to present later, usually in the second decade. For any unexplained myopathy, especially if there is concern for a metabolic myopathy, there should also be consideration of a mitochondrial disease. Many mitochondrial disorders present with multiple neurological problems, such as deafness, seizures, encephalopathy, ptosis, or ophthalmoplegia. This chapter will discuss the complexities of genetic testing and muscle biopsy for the evaluation of a possible metabolic myopathy.

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