Enfermedad de McArdle (enfermedad de depósito de glucógeno tipo V).

BACKGROUND: McArdle disease, also known as type V glycogen storage disease, is an autosomal recessive hereditary metabolic myopathy, in which there is minimal or no production of the glycogen phosphorylase enzyme in muscle and is characterized by exercise intolerance, in addition to elevated creatine kinase levels, which can lead to rhabdomyolysis. CLINICAL CASE: A 25-year-old male patient, cared at the Internal Medicine service for myopathy and increased creatine kinase in whom the electromyography was normal and the muscle biopsy did not provide specific data, but the diagnosis of McArdle disease was concluded by genetic study. CONCLUSIONS: In McArdle disease laboratory, electrodiagnostic, and imaging studies may be normal and nonspecific. This disease should be suspected in young people with intolerance to physical activity. [ABSTRACT FROM AUTHOR]