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Diseases Covered by EURO-NMD (Disease Groups)

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:

(By clicking in a specific group link you will be directed to a dedicated page 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)

Group
Chair/Co-chair

Mitochondrial Diseases Working Group

The focus of the working group is to establish the harmonisation of patient care in the member countries by setting up care guidelines and by…

Michelangelo Mancuso
Cornelia Kornblum

Neuromuscular Junction Specialised Group

Neuromuscular Junction Working Group – Myasthenia Gravis (MG) and Congenital Myasthenic Syndromes (CMS) Existing guidelines have been collected for MG (Europe, US, UK, Germany, Italy,…

Hanns Lochmüller
Lorenzo Maggi

Motor Neuron Diseases Working Group

The Motor Neuron Diseases WG has been divided into the two subgroups: ALS group and SMA group. The main focus and goals of both subgroups…

Vincenzo Silani
Jan Kirschner
Vincenzo Silani
Jan Kirschner

Peripheral Nerve Diseases Working Group

The main aim of the Peripheral Nerve Diseases Working Group is to facilitate and enable equity of rare neuropathy (genetic and inflammatory) care in adults…

Davide Pareyson
Kleopas Kleopa

Muscle Working Group

Guidelines – Gap analysis   Existing DMD (2009) – DMD Care Considerations Working Group – diagnosis and management Limb girdle and distal muscular dystrophies (2014)…

Marianne De Visser