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:
|Rare Muscle Diseases|
|Acquired and genetic skeletal muscle diseases||Marianne de Visserfirstname.lastname@example.org|
|Rare Peripheral Nerve Diseases|
|Acquired and Inherited Neuropathies||Davide Pareysonemail@example.com|
|Neuromuscular Junction Disorders|
|Congenital Myasthenic Syndromes, Myasthenia Gravis, Other autoimmune NMJ defects (Lambert-Eaton myasthenic syndrome)||Hanns Lochmullerfirstname.lastname@example.org|
|Motor Neuron Diseases|
|Amyotrophic Lateral Sclerosis (ALS) and related diseases, Spinal Muscular Atrophy (SMA) and related diseases||Leonard Van den Berg||L.H.vandenBerg@umcutrecht.nl|
|Mitochondrial encephalomyopathies caused by mtDNA, Nuclear gene defects (MERRF, NARP, etc.) or causing mitochondrial the single mtDNA encephalomyopathy||Cornelia Kornblumemail@example.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.
|Neuromuscular Genetics Group||Alessandra Ferlinifirstname.lastname@example.org|
|Neuromuscular Imaging Group||Pierre Carlieremail@example.com|
|Neuromuscular Pathology Group||Montse Olivé||MOliveP@santpau.cat|
|Neuromuscular Neurophysiology Group||Peter Van Den Berghfirstname.lastname@example.org|
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.