Muscle Working Group – European Reference Network

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

Committee Members

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;