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
Document type: Treatment guidelines, Guidelines, Diagnosis, Care
Recommended by: Motor Neuron Disease group: July, 2018

Management of Cardiac Involvement Associated With Neuromuscular Diseases

Published: August, 2017
Document type: Treatment guidelines, Guidelines
Recommended by: Muscle Diseases group: July, 2018

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

Published: March, 2015
Document type: Treatment guidelines, Guidelines, Diagnosis, Care
Recommended by: Muscle Diseases group: July, 2018

Diagnosis and management of Duchenne muscular dystrophy, part 1

Published: January, 2018
Document type: Guidelines, Diagnosis, Care
Recommended by: Muscle Diseases group: July, 2018

Diagnosis and management of Duchenne muscular dystrophy, part 2

Published: January, 2018
Document type: Guidelines, Diagnosis, Care
Recommended by: Muscle Diseases group: July, 2018

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

Published: February, 2012
Document type: Guidelines, Care
Recommended by: Motor Neuron Disease group: July, 2018

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

Published: July, 2015
Document type: Treatment guidelines, Guidelines, Diagnosis, Care
Recommended by: Muscle Diseases group: July, 2018

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

Published: October, 2014
Document type: Treatment guidelines, Guidelines, Diagnosis, Care
Recommended by: Muscle Diseases group: July, 2018

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

Published: May, 2012
Document type: Guidelines, Diagnosis
Recommended by: Muscle Diseases group: July, 2018

Common data elements for clinical research in mitochondrial disease

Published: May, 2017
Document type: Guidelines, Clinical research
Recommended by: Mitochondrial Diseases group: July, 2018

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

Published: December, 2017
Document type: Workshop report, Outcome measures, Guidelines
Recommended by: Mitochondrial Diseases group: July, 2018

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

Published: July, 2017
Document type: Guidelines, Care
Recommended by: Mitochondrial Diseases group: June, 2018

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

Published: May, 2017
Document type: Treatment guidelines, Guidelines
Recommended by: Muscle Diseases group: July, 2018

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Published: October, 2017
Document type: Guidelines, Diagnosis
Recommended by: Mitochondrial Diseases group: July, 2018

Diagnosis and management of spinal muscular atrophy: Part 1

Published: February, 2018
Document type: Guidelines, Diagnosis, Care
Recommended by: Motor Neuron Disease group: July, 2018

Diagnosis and management of spinal muscular atrophy: Part 2

Published: March, 2018
Document type: Treatment guidelines, Guidelines, Care
Recommended by: Motor Neuron Disease group: July, 2018

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“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).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern