RESUMO
Pompe disease is a rare metabolic myopathy whose diagnosis is sometimes delayed despite being essential for improving clinical outcomes. We aimed to investigate the prevalence of late-onset Pompe disease among patients with a myopathy of unknown etiology, including polymyositis, or with idiopathic rise of creatine kinase (CK) levels, in a department of internal medicine. A cohort study was conducted in 241 subjects: 140 patients with myopathies of unknown origin or increased CK levels, 30 with polymyositis and 71 who constituted the control group of other myopathies. Acid α-glucosidase (GAA) activity was tested in dried blood spots. If a positive result was obtained, GAA activity in isolated lymphocytes and/or genetic testing was performed as a confirmatory diagnosis. Out of the 140 investigated patients, 2 patients with myopathies of unknown origin were confirmed to be positive for Pompe disease. Thus, late-onset Pompe disease should be considered among adult patients with myopathy of unknown origin.
Assuntos
Diagnóstico Tardio , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Doenças Musculares/etiologia , Adulto , Estudos de Coortes , Creatina Quinase/genética , Creatina Quinase/metabolismo , Teste em Amostras de Sangue Seco , Feminino , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Doenças Musculares/genética , Mutação , Polimiosite/etiologia , Polimiosite/genética , alfa-Glucosidases/sangueRESUMO
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Assuntos
Humanos , Mutação/genética , Análise Citogenética/métodos , Registros Hospitalares/normas , Terminologia como Assunto , Prontuários Médicos/normas , Aconselhamento Genético/normasRESUMO
Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid alpha-glucosidase. We present the molecular and enzymatic analyses of 22 Spanish GSD II patients. Molecular analyses revealed nine novel mutations. The most common defects were mutations c.-32-13T>G (25%) and c.1076-1G>C (14%) and we report the first homozygous patient for c.1076-1G>C mutation presenting with an infantile form. Alleles bearing mutation c.-32-13T>G are associated with the same haplotype.