ABSTRACT
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.
Subject(s)
Delayed Diagnosis , Glycogen Storage Disease Type II/diagnosis , Muscular Diseases/etiology , Adult , Cohort Studies , Creatine Kinase/genetics , Creatine Kinase/metabolism , Dried Blood Spot Testing , Female , Genetic Testing , Humans , Middle Aged , Muscular Diseases/genetics , Mutation , Polymyositis/etiology , Polymyositis/genetics , alpha-Glucosidases/bloodABSTRACT
No disponible
Subject(s)
Humans , Mutation/genetics , Cytogenetic Analysis/methods , Hospital Records/standards , Terminology as Topic , Medical Records/standards , Genetic Counseling/standardsABSTRACT
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.
