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
| Name | Organisation |
| Emilio Albamonte | Nemo Clinical Center |
| Guja Astrea | Azienda Ospedaliera Universitaria Pisana (AOUP) |
| Shahram Attarian | AP-HM |
| Giovanni Baranello | Fondazione IRCCS, Istituto Neurologico C.Besta |
| Pia Bernasconi | Fondazione IRCCS, Istituto Neurologico C.Besta |
| Gianna Berti | Azienda Ospedaliera Universitaria Senese |
| Enrico Bertini | Ospedale Bambino Gesu IRCCS |
| Sonia Blanch | Hospital Universitario y Politécnico La Fe |
| Astrid Blaschek | Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University |
| Joachim Brites | PAB |
| Esther Brussel | Erasmus MC University Hospital |
| Gunnar Buyse | University Hospitals Leuven, Neuromuscular Reference Centre |
| Elena Cardaioli | Azienda Ospedaliera Universitaria Senese |
| Filomena Caria | ASST “Spedali Civili” |
| Elena Carrado | Nemo Clinical Center |
| Conti Caterina | Nemo Clinical Center |
| Michela Catteruccia | Ospedale Bambino Gesu IRCCS |
| Brigitte Chabrol | AP-HM |
| Teodora Chamova | Expert Centre for Hereditary Neurologic and Metabolic Disorders |
| Lucia Chico | Azienda Ospedaliera Universitaria Pisana (AOUP) |
| Kristl Claeys | University Hospitals Leuven, Neuromuscular Reference Centre |
| Giacomo Comi | Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy) |
| Sandra Coppens | Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles |
| Sian Craig | Great Ormond Street Hospital |
| Adele D’Amico | Ospedale Bambino Gesu IRCCS |
| Trak Davis | Great Ormond Street Hospital |
| Liesbeth De Waele | University Hospitals Leuven, Neuromuscular Reference Centre |
| Nicolas Deconinck | Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles |
| Isabelle Desguerre | Hôpital Raymond Poincaré, 92380 GARCHES |
| Valeri Dhetz | CHU NICE |
| Jordi Díaz Manera | Hospital de la Santa Creu i Sant Pau |
| Maria Terersa Dotti | Azienda Ospedaliera Universitaria Senese |
| Filip Eftimov | AMC Amsterdam |
| Louise Emerson | Great Ormond Street Hospital |
| Teresinha Evangelista | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Jozsef Janszky | University of Pécs |
| Elisa Falcier | Nemo Clinical Center |
| Massimiliano Filosto | ASST “Spedali Civili” |
| Giuseppe Fiorentino | University Hospital “Luigi Vanvitelli” |
| Jane Freebody | Oxford University Hospitals NHS Foundation Trust |
| Alain Furby | Rhône Alpes neuromuscular center |
| Eduard Gallardo | Hospital de la Santa Creu i Sant Pau |
| Josep Gamez | Hospital Universitari Vall d’Hebron |
| Jeremy Garcia | CHU NICE |
| Francesca Gimigliano | University Hospital “Luigi Vanvitelli” |
| Nathalie Goemans | University Hospitals Leuven, Neuromuscular Reference Centre |
| Tanja Golli | University Medical Center Ljubljana |
| Cristina Grandi | Nemo Clinical Center |
| Michela Guglieri | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Kinga Hadzsiev | University of Pécs |
| David Hilton-Jones | Oxford University Hospitals NHS Foundation Trust |
| Tomas Horak | University Hospital Brno |
| Eugenia Ibáñez | Hospital Universitario y Politécnico La Fe |
| Anna Kaminska | SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw |
| Biruta Kierdaszuk | SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw |
| Diana Kim | FSHD EU |
| Heike Koelbel | Childrens Clinic Essen University Hospital (University Hospital Germany) |
| Anna Kostera-Pruszczyk | SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw |
| Norbert Kovacs | University of Pécs |
| Madelon Kroneman | Spierziekten Nederland – Neuromuscular Association Netherlands |
| Pascal Laforet | Hôpital Raymond Poincaré, 92380 GARCHES |
| François Lamy | AFM-Téléthon |
| Diana Lehmann | Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU) |
| Christopher Lindberg | Sahlgrenska University Hospital (University Hospital Sweden) |
| Hanns Lochmüller | Medical Center – University of Freiburg (University Hospital Germany) |
| Sara Luppone | Nemo Clinical Center |
| Anna Lusakowska | SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw |
| Lorenzo Maggi | Fondazione IRCCS, Istituto Neurologico C.Besta |
| Marion Main | Great Ormond Street Hospital |
| Alessandro Malandrini | Azienda Ospedaliera Universitaria Senese |
| Edoardo Malfatti | Hôpital Raymond Poincaré, 92380 GARCHES |
| Martial Mallaret | Rhône Alpes neuromuscular center |
| Cecilia Jimenez Mallebrera | Hospital Sant Joan de Déu – Universidad de Barcelona |
| Adnan Manzur | Great Ormond Street Hospital |
| Chiara Marini Bettolo | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Iatomasi Marino | Nemo Clinical Center |
| Nicolas Mavroudakis | Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles |
| Anna Mayhew | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Radim Mazanec | Faculty Hospital Motol, Prague |
| Elena Mazzone | Fondazione Policlinico Universitario A. Gemelli |
| Bela Melegh | University of Pécs |
| Eugenio Mercuri | Fondazione Policlinico Universitario A. Gemelli |
| James Miller | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Massimiliano Mirabella | Fondazione Policlinico Universitario A. Gemelli |
| Maria Judit Molnar | Semmelweis University |
| Marcellino Monda | University Hospital “Luigi Vanvitelli” |
| Tiziana Mongini | Azienda Ospedaliera Universitaria Città della Salute edella Scienza di Torino |
| Vincenzo Montano | Azienda Ospedaliera Universitaria Pisana (AOUP) |
| Marisol Montolio) | Duchenne Parent Project Spain |
| Marina Mora | Fondazione IRCCS, Istituto Neurologico C.Besta |
| Valentina Morettini | Nemo Clinical Center |
| Isabella Moroni | Fondazione IRCCS, Istituto Neurologico C.Besta |
| Lenka Mrazova | University Hospital Brno |
| Nuria Muelas | Hospital Universitario y Politécnico La Fe |
| Wolfgang Müller-Felber | Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University |
| Francina Munell | Hospital Universitari Vall d’Hebron |
| Cristina Muntean | Karolinska Universitetssjukhuset (University Hospital Sweden) |
| Pinki Muntoni | Great Ormond Street Hospital |
| Gerardo Nigro | University Hospital “Luigi Vanvitelli” |
| Carlos Ortez | Hospital Sant Joan de Déu – Universidad de Barcelona |
| Endre Pál | University of Pécs |
| Francesc Palau | Hospital Sant Joan de Déu – Universidad de Barceona |
| Alberto Palladino | University Hospital “Luigi Vanvitelli” |
| Carmen Paradas | Complejo Hospitalario Regional Virgen del Rocío (Regional Hospital Spain) |
| Pasquale Esposito | University Hospital “Luigi Vanvitelli” |
| Marina Pedemonte | Istituto Gaslini |
| Elena Pegoraro | Azienda Ospedaliera – University of Padova |
| Borut Peterlin | University Medical Center Ljubljana |
| Philippe Petiot | Rhône Alpes neuromuscular center |
| Lorenzo Peverelli | Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy) |
| Zoltan Pfund | University of Pécs |
| Rhaul Phadke | Great Ormond Street Hospital |
| Inmaculada Pitarch | Hospital Universitario y Politécnico La Fe |
| Luisa Politano | University Hospital ” Luigi Vanvitelli” |
| Anna Potulska-Chromik | SPCSK, Department of Neurology, Medical University of Warsaw,Banacha 1a Warsaw |
| Angela Puma | CHU NICE |
| Peter Reilich | Friedrich-Baur-Institute, Klinikum der LMU Munich |
| Jens Reimann | University Hospital of Bonn |
| Gauthier Remiche | Centre de Référence Neuromusculaire Erasme-HUDERF, Université Libre de Bruxelles |
| Enzo Ricci | Fondazione Policlinico Universitario A. Gemelli |
| Federica Ricci | Azienda Ospedaliera Universitaria Città della Salute edella Scienza di Torino |
| Giulia Ricci | Azienda Ospedaliera Universitaria Pisana (AOUP) |
| Angela Rosenbohm | Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts- und Rehabilitationskliniken Ulm (RKU) |
| Sabrina Sacconi | CHU NICE |
| Emmanuelle Salort-Campana | AP-HM |
| Maria Salvado | Hospital Universitari Vall d’Hebron |
| Anna Sarkozy | Great Ormond Street Hospital |
| Stefano Sartori | Azienda Ospedaliera – University of Padova |
| Ulrike Schara | Childrens Clinic Essen University Hospital (University Hospital Germany) |
| Jens Schmidt | University Medical Center Gottingen |
| Carola Schön | Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University |
| Benedikt Schoser | Friedrich-Baur-Institute, Klinikum der LMU Munich |
| Monica Sciacco | Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano (University Hospital Italy) |
| Thomas Sejersen | Karolinska Universitetssjukhuset (University Hospital Sweden) |
| Serenella Servidei | Fondazione Policlinico Universitario A. Gemelli |
| Gabriele Siciliano | Azienda Ospedaliera Universitaria Pisana (AOUP) |
| Costanza Simoncini | Azienda Ospedaliera Universitaria Pisana (AOUP) |
| Volker Straub | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Agnes Till | University of Pécs |
| Albena Todorova | Expert Centre for Hereditary Neurologic and Metabolic Disorders |
| Antonio Toscano | AOU Policlinico “G.Martino” Messina |
| Ivailo Tournev | Expert Centre for Hereditary Neurologic and Metabolic Disorders |
| Federica Trucco | Istituto Gaslini |
| Sansone Valeria | Nemo Clinical Center |
| Peter Van den Bergh | University Hospital St-Luc |
| Nadine van der Beek | Erasmus MC University Hospital |
| Anneke van der Kooi | AMC Amsterdam |
| Ans van der Ploeg | Erasmus MC University Hospital |
| Judit Varadine Csapo | PAB |
| Liliana Vercelli | Azienda Ospedaliera Universitaria Città della Salute edella Scienza di Torino |
| Juan Vílchez | Hospital Universitario y Politécnico La Fe |
| Katharina Vill | Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University |
| Luisa Villa | CHU NICE |
| Giuseppe Vita | AOU Policlinico “G.Martino” Messina |
| Sibylle Vogt | Medical Center – University of Freiburg (University Hospital Germany) |
| Stanislav Vohanka | University Hospital Brno |
| Maggie Walter | Friedrich-Baur-Institute, Klinikum der LMU Munich |
| Therese Well | Department of pediatric Neurology, Dr.v. Hauner Childrens hospital, Ludwig Maximilians University |
| Alice Zanolini | Nemo Clinical Center |
| Judith Zima | University of Pécs |
| Olesja Parmova | University Hospital Brno |
| Daniela Botikova | University Hospital Brno |
| Luigia Passamano | University Hospital “Luigi Vanvitelli” |
| Léonard Féasson | Rhône Alpes Neuromuscular Center |
| Arnaud Lacour | Rhône Alpes Neuromuscular Center |
Guidelines recommended by the Muscle Working Group group
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease
European Journal of Neurology – May, 2017
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
European Journal of Human Genetics – May, 2012
Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies
Neurology – October, 2014
Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy
Neurology – July, 2015
Diagnosis and management of Duchenne muscular dystrophy, part 2
Lancet Neurology – January, 2018
Diagnosis and management of Duchenne muscular dystrophy, part 1
Lancet Neurology – January, 2018
Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy
Neurology – March, 2015
Management of Cardiac Involvement Associated With Neuromuscular Diseases
Circulation – August, 2017
Chair
Marianne de Visser
Vice-chairs
Antonio Toscano
metabolic myopathies
Jens Schmidt
inflammatory myopathies
Carmen Paradas
paediatric muscle diseases
