When laziness unveils the disease - a case of McArdle disease

• Autor(a) principal: Mesquita Amaral, Vera Fernanda
• Data de Publicação: 2016
• Outros Autores: Sá Martins, Aníbal Alberto
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Brasileira de Medicina de Família e Comunidade (Online)
• Texto Completo: https://www.rbmfc.org.br/rbmfc/article/view/1277
• topic: Glycogen Storage Disease Type V. Physicians. Primary Health Care. Rare Diseases; Enfermedad del Almacenamiento de Glucógeno Tipo V. Médicos. Atención Primaria de Salud. Enfermedades Raras; Doença do Depósito do Glicogênio Tipo V. Médicos .Atenção Primária à Saúde .Doenças Raras; Doença de Depósito de Glicogênio Tipo V

McArdle’s disease is a rare, autosomal recessive disease, manifesting through exercise intolerance, myalgia and myoglobinuria crises by rhabdomyolysis. Renal failure and muscular ischemia associated with inhaled anesthetics and muscle relaxants may occur. This is a case of a 38-year-old man who presented repeated complaints of fatigue, palpitations and “feeling that the muscle blocked up and shrunk” (sic) during exercise, forcing him to stop. These complaints occurred since adolescence and ceased with exercise reduction. The patient was evaluated and had a CPK of 554mcg/L, without other alterations in the exams, thus being referred to a Neurology appointment by his family doctor. He then was submitted to a muscular biopsy which later revealed McArdle’s disease. The family doctor should be able to manage cases that arise nonspecifically, valuing specific and persistent complaints over time and remain alert for situations that suggest an uncommon disease.