title: McArdle disease: 2 case reports.
abstract: A high serum level of creatine kinase (CK) is a common reason for referring to medical specialities. Myopathies are one of the causes of elevated levels of CK. McArdle disease is the most common disorder of skeletal muscle carbohydrate metabolism. The cases are presented on 2 patients who were referred to our medical consultation to study the cause of their increased CK levels: a 72 year old asymptomatic man with high levels of CK detected by chance in a routine analysis, and a 30 year old woman with very few symptoms, apart from slight muscle pain and tiredness. Electromyography was normal in both patients. There was null activity of myophosphorylase in muscle biopsy of both cases, so a diagnosis of McArdle disease was made.
authors.affiliation: Servicio de Reumatología, Hospital El Bierzo, Ponferrada, León, España. Electronic address: cdiezmorrondo@saludcastillayleon.es.
authors.forename: Carolina
authors.initials: C
authors.lastname: Diez Morrondo
authors.affiliation: Servicio de Reumatología, Hospital El Bierzo, Ponferrada, León, España.
authors.forename: Lucía
authors.initials: L
authors.lastname: Pantoja Zarza
authors.affiliation: Servicio de Anatomía Patológica, Hospital Meixoeiro, Vigo, España.
authors.forename: Beatriz
authors.initials: B
authors.lastname: San Millán Tejado
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis*; D006801:Humans; D008297:Male
keywords: Enfermedad de McArdle; Glucogenosis muscular; McArdle disease; Metabolic myopathy; Miofosforilasa; Miopatía metabólica; Muscular glycogenosis; Myophosphorylase