ArticleNeurology2023
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
3.7field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study.European journal of neurology · 2026Article
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- A roadmap for a patient-centred approach to Pompe disease management.Journal of neurology · 2026Review
- Austrian Pompe Outcome Consensus (APOC): a national Delphi study.Orphanet journal of rare diseases · 2026Article
- Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.Orphanet journal of rare diseases · 2025Observational
- Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.European journal of neurology · 2025Article
- Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice.Molecular therapy. Methods & clinical development · 2025Article
- A model to predict the 6-Minute Walk Distance in Pompe disease.Journal of neuromuscular diseases · 2025Article
- Real-world evidence for Pompe disease remains fragmented. Comment on "A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem" by Klein et al.Orphanet journal of rare diseases · 2025Article
- Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.European journal of neurology · 2024Article
- Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.Neurology · 2024Article
- Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.European journal of neurology · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
26 authors at 1 institution in 1 country.
Claire LefeuvreFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.ORCID 0000-0001-6433-4980
Marie De AntonioFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Francoise BouhourFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Celine TardFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Emmanuelle Salort-CampanaFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.ORCID 0000-0002-1846-3017
Emmeline LagrangeFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.ORCID 0000-0002-9844-0762
Anthony BehinFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Guilhem SoleFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.ORCID 0000-0001-9599-6573
Jean-Baptiste NouryFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Sabrina SacconiFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Armelle MagotFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Aleksandra Nadaj-PaklezaFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Arnaud LacourFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Stephane BeltranFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Marco SpinazziFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Pascal CintasFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Dimitri RenardFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Maud MichaudFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Anne-Laure Bedat-MilletFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Helene PrigentFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Nadjib TaouaghFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Azzeddine ArrassiFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Dalil HamrounFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.ORCID 0000-0002-4853-8227
Shahram AttarianFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.ORCID 0000-0002-7211-4694
Pascal LaforêtFrom the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France. pascal.laforet@aphp.fr.
for Pompe Study Group
Inserm · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesThe French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa.
methodsApproximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry.
resultsWe describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients. DISCUSSION: This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments.
Indexed as
Glycogen Storage Disease Type IIAdultalpha-GlucosidasesEnzyme Replacement TherapyFranceHumansMiddle AgedMuscle WeaknessRegistriesWalkingYoung Adultalpha-Glucosidases
Identifiers
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