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      Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

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          Early diagnosis is of substantial benefit for patients with Pompe disease. Yet underdiagnosing and substantial diagnostic delay are still frequent and the determinants of this are unknown. This study is the first to systematically investigate the diagnostic odyssey in Pompe disease from patients', parents', and physicians' perspectives.


          Patients with infantile or late onset Pompe disease, their parents as well as their metabolic experts were invited to fill in respective surveys. The survey addressed perceived disease symptoms at onset and during the course of the disease, specialties of involved physicians, activities of patient‐initiated search for diagnosis and the perceived impact of time to diagnosis on outcome. Results of experts' and patients'/parents' surveys were compared and expressed by descriptive statistics.

          Results and Discussion

          We collected data on 15 males and 17 females including 9 infantile and 23 late onset Pompe patients. All received the correct diagnosis at a metabolic or musculoskeletal expert center. Patients with direct referral to the expert center had the lowest diagnostic delay, while patients who were seen by several physicians, received the correct diagnosis after 44%‐200% longer delay. The proportion of direct referral varied strongly between pediatricians (57%) and other disciplines (18%‐36%).


          Our study highlights a substantially larger diagnostic delay in Pompe patients that are not directly referred to expert centers for diagnostic work. Our findings may be used to develop more successful strategies for early diagnosis.


          Diagnostic delay in Pompe disease is substantial particularly in patients that are not directly referred to expert centers for diagnostic workup, so facilitating direct referral may be a new strategy for early diagnosis.

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          Most cited references 11

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          alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

           H Hers (1962)
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            Consensus treatment recommendations for late-onset Pompe disease.

             ,  Joel Berger,  T Kissel (2012)
            Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease. A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken. A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients' condition should be reevaluated to determine whether ERT should be continued. Copyright © 2011 Wiley Periodicals, Inc.
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              Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

              To characterize the phenotypes of patients with juvenile and adult-onset acid maltase deficiency (AMD) in the French population and correlate them with genetic defects. AMD is an autosomal recessive disorder caused by the absence of the enzyme acid a-glucosidase (GAA). Patients are generally compound heterozygotes for various mutations in the GAA gene. The most common mutant allele is a -13T to G transversion in intron 1. The authors performed a clinical, biochemical, and genetic study on 21 unrelated patients with juvenile and adult-onset AMD. Although onset of progressive muscle weakness occurred during adulthood in all cases but one, presence of mild, nonprogressive muscular symptoms appearing during childhood was detected in 16 patients. Eighteen patients had a similar clinical pattern with pelvic girdle muscle weakness predominating in glutei and thigh adductors. Restrictive respiratory insufficiency with vital capacity less than 60% was noted in eight patients, and respiratory failure was the first manifestation in two cases. All patients but one were compound heterozygotes, and 17 carried the IVS1 (-13T ---> G) transversion (one patient was homozygous for this mutation). The two mutated alleles were identified in 10 cases, with 13 different mutations detected in the GAA gene. There was no clear correlation between the type of mutation and phenotype. This study shows a high genetic heterogeneity of juvenile and adult AMD in the French population. The absence of genotype-phenotype correlation suggests a complex physiopathology that requires further investigations.

                Author and article information

                JIMD Rep
                JIMD Rep
                JIMD Reports
                John Wiley & Sons, Inc. (Hoboken, USA )
                17 July 2019
                September 2019
                : 49
                : 1 ( doiID: 10.1002/jmd2.v49.1 )
                : 89-95
                [ 1 ] Institute for Inborn Errors of Metabolism, Paracelsus Medical University Salzburg Austria
                [ 2 ] Department of Paediatrics Paracelsus Medical University Salzburg Austria
                [ 3 ] Division of Metabolism and Children's Research Centre University Children's Hospital Zurich Switzerland
                [ 4 ] Division of Metabolic Diseases (Villa Metabolica) Center for Diseases in Childhood and Adolescence, Mainz Medical University Mainz Germany
                [ 5 ] Department of Neurology Cantonal Hospital St. Gallen Switzerland
                [ 6 ] Department of Neurology, Inselspital University Hospital Bern Switzerland
                [ 7 ] Center of Endocrinology and Metabolism, Rheumatology and Neurology Endokrinologikum Frankfurt Frankfurt a. M. Germany
                [ 8 ] Radiz – Rare Disease Initiative Zürich, Clinical Research Priority Program University of Zürich Zürich Switzerland
                [ 9 ] Department of Paediatrics Landeskrankenhaus Bregenz Austria
                Author notes
                [* ] Correspondence

                Florian B. Lagler, Institute for Inborn Errors of Metabolism and Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.

                Email: florian.lagler@ 123456pmu.ac.at

                Martina Huemer, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zürich, Switzerland.

                Email: martina.huemer@ 123456lkhb.at


                Florian B. Lagler and Martina Huemer contributed equally to this study.

                © 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                Page count
                Figures: 3, Tables: 0, Pages: 7, Words: 3690
                Funded by: Genzyme a Sanofi Company
                Research Report
                Research Reports
                Custom metadata
                September 2019
                Converter:WILEY_ML3GV2_TO_NLMPMC version:5.6.8 mode:remove_FC converted:02.09.2019


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