2024, Number 08
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Med Int Mex 2024; 40 (08)
McArdle disease (type V glycogen storage disease)
Hernández LA, Zamora FPA, Guízar GLA
Language: Spanish
References: 12
Page: 542-546
PDF size: 187.70 Kb.
ABSTRACT
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.
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