Recommended Guidelines

Our network group members have currently identified the follow guidelines that they regularly rely upon and find very valuable for many aspects of their day to day work.

This list below (which you can filter by disease) is under constant review as we are made aware of more high quality, peer reviewed information that will benefit our community.

As we add more content to this section of our website and appreciate how it can best be used we will redesign its structure.



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Motor Neurone Disease: Assessment and Management

Published: February, 2016
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Recommended by: Motor Neuron Diseases Working Group group: July, 2018

Management of Cardiac Involvement Associated With Neuromuscular Diseases

Published: August, 2017
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Recommended by: Muscle Working Group group: July, 2018

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

Published: March, 2015
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Recommended by: Muscle Working Group group: July, 2018

Diagnosis and management of Duchenne muscular dystrophy, part 1

Published: January, 2018
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Recommended by: Muscle Working Group group: July, 2018

Published:
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Recommended by: Muscle Working Group group: July, 2018

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)–revised report of an EFNS task force

Published: February, 2012
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Recommended by: Motor Neuron Diseases Working Group group: July, 2018

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

Published: July, 2015
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Recommended by: Muscle Working Group group: July, 2018

Recommendations for whole genome sequencing in diagnostics for rare diseases

Published: May, 2022
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Recommended by: Genetics Specialised Group group: May, 2022

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies

Published: October, 2014
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Recommended by: Muscle Working Group group: July, 2018

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Published: May, 2012
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Recommended by: Muscle Working Group group: July, 2018

Common data elements for clinical research in mitochondrial disease

Published: May, 2017
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Recommended by: Mitochondrial Diseases Working Group group: July, 2018

Recommended Standards for Muscle Biopsies

Published: March, 2019
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Recommended by: Neuromuscular Pathology Specialised Group group: January, 2019

Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults

Published: December, 2017
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Recommended by: Mitochondrial Diseases Working Group group: July, 2018

Patient Care Standards for Primary Mitochondrial Disease: A Consensus Statement from the Mitochondrial Medicine Society

Published: July, 2017
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Recommended by: Mitochondrial Diseases Working Group group: June, 2018

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease

Published: May, 2017
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Recommended by: Muscle Working Group group: July, 2018

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Published: October, 2017
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Recommended by: Mitochondrial Diseases Working Group group: July, 2018

Diagnosis and management of spinal muscular atrophy: Part 1

Published: February, 2018
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Recommended by: Motor Neuron Diseases Working Group group: July, 2018

Diagnosis and management of spinal muscular atrophy: Part 2

Published: March, 2018
Document type:
Recommended by: Motor Neuron Diseases Working Group group: July, 2018

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“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
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please visit ec.europa.eu/health/ern