Although rare neuromuscular diseases (NMDs) include a broad group of diseases with overall prevalence of 1/3500-1/2500 that represent a major cause of mortality and morbidity in children and adults. Their rarity and diversity pose specific challenges for healthcare provision and research, and for the development and marketing of therapies.

While individually each disease is rare, NMDs collectively affect an estimated 500,000 patients in Europe and result in life-long disabilities with significant costs for families and the healthcare system. Regional and national differences in care and incomplete implementation of standards lead to international disparities and divergent outcomes for NMD patients with the same diagnosis.

This European Reference Network covers the following disease groups:

Working Group Chair/Co-chair Email
Rare Muscle Diseases
Acquired and genetic skeletal muscle diseases Marianne de Visser m.devisser@amsterdamumc.nl
Rare Peripheral Nerve Diseases
Acquired and Inherited Neuropathies Davide Pareyson davide.pareyson@istituto-besta.it
Neuromuscular Junction Disorders
Congenital Myasthenic Syndromes, Myasthenia Gravis, Other autoimmune NMJ defects (Lambert-Eaton myasthenic syndrome) Hanns Lochmuller hanns.lochmuller@gmail.com
Lorenzo Maggi Lorenzo.Maggi@istituto-besta.it
Motor Neuron Diseases
Amyotrophic Lateral Sclerosis (ALS) and related diseases, Spinal Muscular Atrophy (SMA) and related diseases Vincenzo Silani vincenzo.silani@unimi.it
Jan Kirschner janbernd.kirschner@uniklinik-freiburg.de
Mitochondrial Diseases
Mitochondrial encephalomyopathies caused by mtDNA, Nuclear gene defects (MERRF, NARP, etc.) or causing mitochondrial the single mtDNA encephalomyopathy Cornelia Kornblum cornelia.kornblum@ukbonn.de
Michelagelo Mancuso mancusomichelangelo@gmail.com

 

 

Additionally there are Cross-Cutting speciality groups that cover ancillary tools that are used by all the groups to diagnose Neuromuscular Diseases. They are also organized by Speciality Groups.

Speciality Group Chair/Co-chair Email
Neuromuscular Genetics Group Alessandra Ferlini fla@unife.it
Neuromuscular Imaging Group Pierre Carlier pghrmgc@gmail.com
Neuromuscular Pathology Group Eduardo Malfatti edoardo.malfatti@aphp.fr
Neuromuscular Neurophysiology Group Peter Van Den Bergh peter.vandenbergh@uclouvain.be
Camiel Verhamme c.verhamme@amc.uva.nl
Multidisciplinary Management & Care Marianne Nordstrøm marianne.nordstrom@frambu.no
Andreas D. Rosenberger andreas.dybesland.rosenberger@unn.no
Hanne Ludt Fossmo halufo@ous-hf.no
Kristin Ørstavik krorstav@ous-hf.no

By clicking in a specific WG/Group link you will be directed to a dedicated page (UNDER CONSTRUCTION) where you find the list of experts and their centers, a list of upcoming working group events, research projects past, present or future that involve the group and other useful links.