1.
Cureus
; 15(9): e44701, 2023 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37809236
RESUMO
McArdle disease is a rare condition, characterized by a deficiency of phosphorylase muscle isoform, an enzyme responsible for the breaking down of glycogen, necessary for obtaining energy. Patients typically present with exercise intolerance, myalgias, fatigue, cramps, muscle stiffness, and/or weakness induced by physical activity. The diagnosis is generally established late, with a median delay of about 29 years. We present the case of a female patient with a long history of myalgias, muscle weakness, and exercise intolerance, diagnosed with McArdle disease by the age of 74, after statin-induced myopathy. We aim to review the diagnosis and treatment of this disease, as a way to raise awareness among the medical community.