Muscle Diseases

Guidelines – Gap analysis

 

  • Existing
    • DMD (2009) – DMD Care Considerations Working Group diagnosis and management
    • Limb girdle and distal muscular dystrophies (2014) – AAN – diagnosis and management
    • DM1/DM2 (2012) – Best practice guideline on molecular diagnosis
    • DM2 (2010) – ENMC – diagnosis and management
    • FSHD (2015) – AAN – diagnosis and management
    • CMD (2015) – AAN – diagnosis and management
    • DMD corticosteroid treatment (2016) – AAN
    • Two care guidelines for DM1 and DM2 in progress with the American DM MDF foundation (easily adoptable to European situation as many European doctors were involved)
    • Guideline on diagnosis and management in IBM in progress (Rose et al., Delphi process, AGREE)

 

  • Non existing
    • MFM
    • Idiopathic inflammatory myopathies

 

Collaboration with Re-CONNECT via Jens Schmidt and MetabERN via Antonio Toscano and Nadine van de Beek/Ans van der Ploeg

 

First Name Surname Centre Country Email
Emilio ALBAMONTE NEMO CLINICAL CENTER IT emilio.albamonte@centrocliniconemo.it
Guja Astrea Azienda Ospedaliera Universitaria Pisana (AOUP) IT g.astrea@inpe.unipi.it
Shahram Attarian AP-HM FR shahram.ATTARIAN@ap-hm.fr
Sigrid Baldanzi Azienda Ospedaliera Universitaria Pisana (AOUP) IT s.baldanzi@unipi.it
Giovanni Baranello Fondazione IRCCS, Istituto Neurologico C.Besta IT giovanni.baranello@istituto-besta.it
Andrea Barp NEMO CLINICAL CENTER IT andrea.barp@centrocliniconemo.it
Guillaume Bassez APHP Hopital Salpetriere , Paris FR guillaume.bassez@aphp.fr
Emilien Bernard Rhône Alpes neuromuscular center FR emilien.bernard@chu-lyon.fr
Pia Bernasconi Fondazione IRCCS, Istituto Neurologico C.Besta IT pia.bernasconi@istituto-besta.it
Gianna Berti Azienda Ospedaliera Universitaria Senese IT gianna.berti@unisi.it
Enrico Bertini Ospedale Bambino Gesu IRCCS IT enricosilvio.bertini@opbg.net
Gunnar Buyse University Hospitals Leuven, Neuromuscular Reference Centre BE Gunnar.Buyse@uzleuven.be
Sonia Blanch Hospital Universitario y Politécnico La Fe SP soblanch@hotmail.com
Astrid Blaschek Department of pediatric Neurology, Dr.v. Hauner ChilDr.ens hospital, Ludwig Maximilians University DE Astrid.blaschek@med.uni-muenchen.de
Esther Brussel Erasmus MC University Hospital NL e.brusse.1@erasmusmc.nl
Elena Cardaioli Azienda Ospedaliera Universitaria Senese IT cardaioli@unisi.it
Elena Carraro NEMO CLINICAL CENTER IT elena.carraro@centrocliniconemo.it
Michela Catteruccia Ospedale Bambino Gesu IRCCS IT michela.catteruccia@opbg.net
Brigitte Chabrol AP-HM FR brigitte.chabrol@ap-hm.fr
Teodora Chamova Expert Centre for Hereditary Neurologic and Metabolic Disorders BG teodoratch@abv.bg
Lucia Chico Azienda Ospedaliera Universitaria Senese IT l.chico@unipi.it
Kristl Claeys University Hospitals Leuven, Neuromuscular Reference Centre BE Kristl.Claeys@uzleuven.be
Giacomo Comi Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital ltaly IT giacomo.comi@unimi.it
SanDr.a Coppens Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE sacoppen@ulb.ac.be
Sian Craig Great Ormond Street Hospital GB Sian.Craig@gosh.nhs.uk
Adele D’Amico Ospedale Bambino Gesu IRCCS IT adele2.damico@opbg.net
Trak Davis Great Ormond Street Hospital GB Tracey.david@gosh.nhs.uk
Marianne De Visser University of Amsterdam NL m.devisser@amc.uva.nl
Liesbeth De Waele University Hospitals Leuven, Neuromuscular Reference Centre BE Liesbeth.Dewaele@uzleuven.be
Nicolas Deconinck Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE Nicolas.DECONINCK@huderf.be
Isabelle Desguerre Hôpital Raymond Poincaré, 92380 GARCHES FR isabelle.desguerre@aphp.fr
Valeri Dhetz CHU NICE FR dhetz-morelli.v@chu-nice.fr
Jordi Díaz Manera Hospital de la Santa Creu i Sant Pau SP jdiazm@santpau.cat
Maria Terersa Dotti Azienda Ospedaliera Universitaria Senese IT maria.dotti@unisi.it
Filip Eftimov AMC Amsterdam NL f.eftimov@amc.uva.nl
Louise Emerson Great Ormond Street Hospital GB Louise.emerson@gosh.nhs.uk
Pasquale Esposito University Hospital “Luigi Vanvitelli” IT pasquale.esposito@unicampania.it
Teresinha Evangelista Assistance Publique -Hôpitaux de Paris (AP-HP) FR t.evangelista@institut-myologie.org
Elisa Falcier NEMO CLINICAL CENTER IT elisa.falcier@centrocliniconemo.it
Massimiliano Filosto ASST “Spedali Civili” IT massimiliano.filosto@unibs.it
Giuseppe Fiorentino University Hospital “Luigi Vanvitelli” IT giuseppefiorentino1@gmail.com
Jane Freebody OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST GB jane.freebody@ouh.nhs.uk
Eduard Gallardo Hospital de la Santa Creu i Sant Pau SP egallardo@santpau.cat
Josep Gamez Hospital Universitari Vall d’Hebron SP josepgamez.bcn@gmail.com
Jeremy Garcia CHU NICE FR garcia.j@chu-nice.fr
Cristina Garrido Centro Hospitalar Universitário do Porto (CHU Porto, Portugal) PT u06491@chporto.min-saude.pt
FRsca Gimigliano University Hospital “Luigi Vanvitelli” IT FRsca.gimigliano@unicampania.it
Nathalie Goemans University Hospitals Leuven, Neuromuscular Reference Centre BE Nathalie.Goemans@uzleuven.be
Tanja Golli University Medical Center Ljubljana SI tanja.golli@kclj.si
Marta Gomez Garcia de la Banda Hôpital Raymond Poincaré, 92380 GARCHES FR marta.gomezgarciadelabanda@aphp.fr
Cristina Grandi NEMO CLINICAL CENTER IT cristina.grandi01@gmail.com
Michela Guglieri Newcastle upon Tyne Hospitals NHS Foundation Trust GB michela.guglieri@newcastle.ac.uk
Jana Haberlová Faculty Hospital Motol, Prague CZ jana.haberlova@fnmotol.cz
Kinga Hadzsiev University of Pécs HU hadzsiev.kinga@pte.hu
Sarah Herdewyn UZ Gent BE Sarah.Herdewyn@uzgent.be
Tomas Horak University Hospital Brno CZ horak.tomas@fnbrno.cz
Eugenia Ibáñez Hospital Universitario y Politécnico La Fe SP ibanez.euge@gmail.com
Lenka Jurikova University Hospital Brno CZ jurikova.lenka@fnbrno.cz
Anna Kaminska SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL amkaminska@wum.edu.pl
Biruta KierdaszGB SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL bkierdaszGB@wum.edu.pl
Diana Kim PAB dvdmeij@yahoo.co.uk
Heike Koelbel ChilDr.en’s Clinic Essen University DE heike.koelbel@GB-essen.de
Samuel Komoly University of Pécs HU komoly.samuel@pte.hu
Anna Kostera-Pruszczyk SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL akostera@wum.edu.pl
Norbert Kovacs University of Pécs HU kovacs.norbert@pte.hu
Ferenc Kover University of Pécs HU kover.ferenc@pte.hu
Madelon Kroneman PAB madelonkroneman@gmail.com
Pascal Laforet Hôpital Raymond Poincaré, 92380 GARCHES FR pascal.laforet@aphp.fr
François Lamy (AFM-Téléthon) FR flamy@afm-telethon.fr
Christopher Lindberg Sahlgrenska University Hospital (University Hospital SE) SE christopher.lindberg@gu.se
Hanns Lochmüller Medical Center – University of FreiBGrg (University Hospital) DE hanns.lochmuller@gmail.com
Sara Luppone NEMO CLINICAL CENTER IT sara_lupone@virgilio.it
Anna Lusakowska SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL alusakowska@wum.edu.pl
Lorenzo Maggi Fondazione IRCCS, Istituto Neurologico C.Besta IT lorenzo.maggi@istituto-besta.it
Marion Main Great Ormond Street Hospital GB Marion.Main@gosh.nhs.uk
Alessandro Malandrini Azienda Ospedaliera Universitaria Senese IT AlessanDr.o.malanDr.ini@unisi.it
Edoardo Malfatti Hôpital Raymond Poincaré, 92380 Garches FR edoardo.malfatti@gmail.com
Martial Mallaret Rhône Alpes neuromuscular center FR martial.mallaret@gmail.com
Cecilia Jimenez Mallebrera Hospital Sant Joan de Déu – Universidad de Barcelona SP cjimenezm@fsjd.org
Adnan Manzur Great Ormond Street Hospital GB Adnan.Manzur@gosh.nhs.uk
Mattia Marchesi ASST “Spedali Civili” IT m.marchesi008@studenti.unibs.it
Chiara Marini Bettolo Newcastle upon Tyne Hospitals NHS Foundation Trust GB Chiara.Marini-Bettolo@newcastle.ac.uk
IATOMASI Marino NEMO CLINICAL CENTER IT marinoiatomasi@gmail.com
Nicolas Mavroudakis Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE Nicolas.Mavroudakis@erasme.ulb.ac.be
Radim Mazanec Faculty Hospital Motol, Prague CZ radim.mazanec@fnmotol.cz
Elena Mazzone Fondazione Policlinico Universitario A. Gemelli IT esmazzone@gmail.com
Bela Melegh University of Pécs HU melegh.bela@pte.hu
Eugenio Mercuri Fondazione Policlinico Universitario A. Gemelli IT eumercuri@gmail.com
Massimiliano Mirabella Fondazione Policlinico Universitario A. Gemelli IT m.mirabella@me.com
Maurizio Moggio Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital ltaly IT maurizio.moggio@policlinico.mi.it
Maria Judit Molnar Semmelweis University HU molnarmj@gmail.com
Marcellino Monda University Hospital “Luigi Vanvitelli” IT marcellino.monda@unicampania.it
Tiziana Mongini Azienda Ospedaliera Universitaria Città della Salute  edella Scienza di Torino IT tizianaenrica.mongini@unito.it
Vincenzo Montano Azienda Ospedaliera Universitaria Pisana (AOUP) IT v.montano89@gmail.com
Marisol Montolio PAB research@duchenne-SP.org
Marina Mora Fondazione IRCCS, Istituto Neurologico C.Besta IT marina.mora@istituto-besta.it
Isabella Moroni Fondazione IRCCS, Istituto Neurologico C.Besta IT isabella.moroni@istituto-besta.it
Nuria Muelas Hospital Universitario y Politécnico La Fe SP nuriamugo@gmail.com
Wolfgang Müller-Felber Department of pediatric Neurology, Dr.v. Hauner ChilDr.ens hospital, Ludwig Maximilians University DE Wolfgang.mueller-felber@med.uni-muenchen.de
Francina Munell Hospital Universitari Vall d’Hebron SP francina.munell@vhir.org
Pinki Muntoni Great Ormond Street Hospital GB Pinki.Munot@gosh.nhs.uk
Aleksandra Nadaj-Pakleza Centre de Référence des Maladies Neuromusculaires de Strasbourg FR aleksandra.nadaj-pakleza@chru-strasbourg.fr
Gerardo Nigro University Hospital “Luigi Vanvitelli” IT gerardo.nigro@unicampania.it
Kristin Ørstavik Oslo University Hospital NO krorstav@ous-hf.no
Carlos Ortez Hospital Sant Joan de Déu – Universidad de Barcelona SP ciortez@sjdhospitalbarcelona.org
EnDr.e Pál University of Pécs HU pal.endre@pte.hu
FRsc Palau Hospital Sant Joan de Déu – Universidad de Barceona SP fpalau@sjdhospitalbarcelona.org
Alberto Palladino University Hospital “Luigi Vanvitelli” IT alberto.palladino@libero.it
Carmen Paradas Complejo Hospitalario Regional Virgen del Rocío (Regional Hospital SP) SP carmenm.paradas.sspa@juntadeandalucia.es
Carmen Paradas Hospital Universitario Virgen del Rocío/IBiS SP carmenm.paradas.sspa@juntadeandalucia.es; cparadas@us.es
Marina Pedemonte ISTITUTO GASLINI IT marinapedemonte@gaslini.org
Elena Pegoraro Azienda Ospedaliera – University of Padova IT elena.pegoraro@unipd.it
Borut Peterlin University Medical Center Ljubljana SI borut.peterlin@guest.arnes.si
Philippe Petiot Rhône Alpes neuromuscular center FR p.petiot@medicina-sante.fr
Zoltan Pfund University of Pécs HU pfund.zoltan@pte.hu
Rhaul Phadke Great Ormond Street Hospital GB Rahul.phadke@nhs.net
Inmaculada Pitarch Hospital Universitario y Politécnico La Fe SP inmapitarch@hotmail.com
Miguel Pinto Centro Hospitalar Universitário do Porto (CHU Porto, Portugal) PT miguelpinto.neuropat@chporto.min-saude.pt
Luisa Politano University Hospital ” Luigi Vanvitelli” (ex SUN) IT luisa.politano@unicampania.it
Luisa Politano University Hospital “Luigi Vanvitelli” IT luisa.politano@unicampania.it
Anna Potulska-Chromik SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw PL apotulska@wum.edu.pl
Angela Puma Sabrina Sacconi FR puma.a@chu-nice.fr
Susana Quijano-Roy Hôpital Raymond Poincaré, 92380 GARCHES FR susana.quijano-roy@aphp.fr
Sithara Ramdas Oxford Neuromuscular Centre (Regional Hospital UK) GB Sithara.Ramdas@ouh.nhs.uk
Jens Reimann University Hospital of Bonn DE jens.reimann@GBbonn.de
Gauthier Remiche Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles BE gauthier.remiche@erasme.ulb.ac.be
Federica Ricci Azienda Ospedaliera Universitaria Città della Salute  edella Scienza di Torino IT federica.ricci@unito.it
Giulia Ricci Azienda Ospedaliera Universitaria Pisana (AOUP) IT g_ricci@alice.it
Enzo Ricci Fondazione Policlinico Universitario A. Gemelli IT enzo.ricci@policlinicogemelli.it
Angela Rosenbohm Universitätsklinikum Ulm (GBG) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU) DE angela.rosenbohm@uni-ulm.de
Sabrina Sacconi CHU NICE FR SACCONI.S@chu-nice.fr
Emmanuelle Salort-Campana AP-HM FR  emmanuelle.salort-campana@ap-hm.fr
Maria Salvado Hospital Universitari Vall d’Hebron SP msalvado@gmail.com
Valeria Sansone NEMO CLINICAL CENTER IT valeria.sansone@unimi.it;  valeria.sansone@centrocliniconemo.it
Manuela Almeida Santos Centro Hospitalar Universitário do Porto (CHU Porto, Portugal) PT msantos.dia@chporto.min-saude.pt
Anna Sarkozy Great Ormond Street Hospital GB Anna.Sarkozy@gosh.nhs.uk
Stefano Sartori Azienda Ospedaliera – University of Padova IT stefano.sartori@unipd.it
Ulrike Schara ChilDr.en’s Clinic Essen University DE ulrike.schara@GB-essen.de
Jens Schmidt Neuromuscular Center of the University Medical Center Gottingen (University Hospital DE) DE j.schmidt@med.uni-goettingen.de
Jens Schmidt University Medical Center Goettingen DE  j.schmidt@med.uni-goettingen.de
Carola Schön Department of pediatric Neurology, Dr.v. Hauner ChilDr.ens hospital, Ludwig Maximilians University DE Carola.schoen@med.uni-muenchen.de
Benedikt Schoser Friedrich-Baur Institut, Ludwig-Maximilians University Munich DE Benedikt.Schoser@med.lmu.de
Benedikt Schoser Friedrich-Baur-Institute, Klinikum der LMU Munich DE Benedikt.Schoser@med.uni-muenchen.de
Monica Sciacco Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital ltaly IT monica.sciacco@policlinico.mi.it
Serenella Servidei Fondazione Policlinico Universitario A. Gemelli IT serenella.servidei@policlinicogemelli.it
Gabriele Siciliano Azienda Ospedaliera Universitaria Pisana (AOUP) IT g.siciliano@med.unipi.it
Costanza Simoncini Azienda Ospedaliera Universitaria Pisana (AOUP) IT costy85@live.it
Volker Straub Newcastle upon Tyne Hospitals NHS Foundation Trust GB volker.straub@newcastle.ac.uk
Juliette Svahn Rhône Alpes neuromuscular center FR j.svahn@chu-lyon.fr
Agnes Till University of Pécs HU till.agnes@pte.hu
Albena Todorova Expert Centre for Hereditary Neurologic and Metabolic Disorders BG todorova_albena@abv.bg
Antonio Toscano AOU Policlinico “G.Martino” Messina (University Hospital IT) IT atoscano@unime.it
Ivailo Tournev Expert Centre for Hereditary Neurologic and Metabolic Disorders BG itournev@emhpf.org
Federica Trucco ISTITUTO GASLINI IT trucco.federica@gmail.com
Nadine van de Beek Erasmus MC University Hospital NL n.beek@erasmusmc.nl
Peter Van den Bergh University Hospital St-Luc BE peter.vandenbergh@uclouvain.be
Nadine Van der Beek Erasmus MC University Hospital NL n.beek@erasmusmc.nl
Anneke van der Kooi AMC Amsterdam NL a.j.kooi@amc.uva.nl
Ans T. Van der Ploeg Erasmus MC University Hospital NL a.vanderploeg@erasmusmc.nl
Judit Varadine Csapo PAB juditcsapo@yahoo.com
Liliana Vercelli Azienda Ospedaliera Universitaria Città della Salute  edella Scienza di Torino IT lilianavercelli@hotmail.com
Juan Vílchez Hospital Universitario y Politécnico La Fe SP vilchez_jje@gva.es
Katharina Vill Department of pediatric Neurology, Dr.v. Hauner ChilDr.ens hospital, Ludwig Maximilians University DE katharina.vill@med.uni-muenchen.de
Luisa VILLA CHU NICE FR villaluisa@hotmail.com
Luisa Villa Sabrina Sacconi FR villa.l@chu-nice.fr
Giuseppe Vita AOU Policlinico “G.Martino” Messina IT vitag@unime.it
Sibylle Vogt Medical Center – University of Freiburg DE sibylle.vogt@uniklinik-freiBGrg.de
Stanislav Vohanka University Hospital Brno CZ vohanka.stanislav@fnbrno.cz
Maggie C. Walter Friedrich-Baur-Institute, Klinikum der LMU Munich DE maggie.walter@lrz.uni-muenchen.de
Therese Well Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University DE therese.well@med.uni-muenchen.de
Gerard Wellenberg PAB gerardwellenberg1@gmail.com
Alice Zanolini NEMO CLINICAL CENTER IT alice.zanolini@centrocliniconemo.it;

Vice-chairs

Antonio Toscano
metabolic myopathies
Jens Schmidt
inflammatory myopathies
Carmen Paradas
paediatric muscle diseases

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern