Standards of care
March 8th, 2023
Recommended standards of care bring together research and recommendations from clinical experts in the field with the aim to improve clinical care for individuals with specific conditions. Below is a list of neuromuscular conditions for which international standards of care have been developed. These publications can be used by doctors, people living with the condition, and families worldwide as a guide to the treatment that people with the specific condition should receive at each stage of the condition.
Click on the links below to be directed to standards of care for that condition. We encourage you to share these resources with your GP, medical specialists, and other health care professionals involved in your care. Some conditions also have a family-friendly guide that outlines the impact of the condition and recommended care in easily understood language.
Duchenne muscular dystrophy (DMD)
DMD Care Guidelines
The DMD care guidelines for clinicians are divided into three parts as outlined below. To view the articles you need to register for free with the Lancet Neurology Journal platform.
Part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
Part 2: Respiratory, cardiac, bone health, and orthopaedic management
Part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan
DMD Guide for Families
The DMD Guide for Families is written for parents / carers in the diagnosis and early ambulatory phase, and to the person living with DMD. This can be accessed here.
Following on from the three-part standards of care, a Consensus Guideline for The Standard of Care of Adults with Duchenne Muscular Dystrophy was developed by the Adult North Star Network (ANSN) in the UK. The aim of this consensus is to add to, but not replace the three-part standards of care, by placing more emphasis on the needs of an adult with more advanced DMD.
Consensus Document for Therapists Working with Adults with DMD
In addition ANSN developed guidelines for therapists participating in the DMD multi-disciplinary team (including physiotherapy, occupational therapy, speech and language therapy and dietetics). Click on the link to access the Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) – Therapy Guidelines
The ANSN consensus documents were developed for clinicians and therapists working with adults with DMD living in the UK, therefore they may not be comparable to Ireland. Despite this it is worth sharing them with your health care professionals as appropriate for their knowledge and development.
Spinal muscular atrophy (SMA)
The international standards of care for SMA has been developed for the most common form of spinal muscular atrophy (SMA), called 5q SMA. It is for both adults and young people who have 5q SMA and for parents and caregivers of children who have 5q SMA. It aims to give information about what care you may expect to receive, so that you can have active discussions with the medical team about how to best manage the condition, including possible options and choices. The information and advice given is not intended to replace the services of your healthcare provider. It may be helpful to have a copy of this guide to hand if at any time you need support from or are having discussions with medical professionals who are not familiar with SMA.
Congenital myopathy (CM)
This publication presents the consensus recommendations for standards of care of people with congenital myopathies, with a focus on guidelines applicable to all congenital myopathy subtypes. The recommendations were formulated by a group of clinicians and scientists from several disciplines and an extensive literature review. This are targeted for clinicians involved in the care for a person with CM.
The Care of Congenital Myopathy; A Guide for Families
This guide is intended for affected persons, families, and caregivers to understand the condition of congenital myopathy and optimise the care for people who are affected by this condition. This guide provides an overview of congenital myopathy (CM) and how specific body systems are affected by CM. It details medical care needed for those with CM, including care from childhood and into adulthood. Your doctor may be able to help explain some of the points made in this guide if you have questions.
Myotonic Dystrophy Foundation (MDF) recruited clinicians from the United States, Canada, and Europe who have experience in the treatment of children and adults with myotonic dystrophy type I (DM1), and adults with myotonic dystrophy type 2 (DM2) to develop consensus-based recommendations for this condition.
DM1 consensus-based care recommendations was created in 2018 to help standardise and improve the quality of care received by people with DM1 and assist clinicians who may not be familiar with the significant variability, range of symptoms, and severity of the condition. An article on the methods and outcome of developing these guidelines published in the Neurology journal is available here. These guidelines are outlined in a 4-page Quick Reference Guide or a more comprehensive report that provides clinical care recommendations for 19 discrete body systems and/or care considerations is available here.
The Consensus-based Care Recommendations for Congenital and Childhood-onset Myotonic dystrophy type 1 is available in full here or a quick view is available here
Myotonic dystrophy type 2 (DM2)
Due to a significant lack of rigorous data, and evidence-based guidelines to inform the clinical care of people living with DM2, 15 leading myotonic dystrophy (DM) clinicians in Europe, Canada and the United States have created the Consensus-based Care Recommendations for Adults with Myotonic Dystrophy Type 2. Click here to read the publication in full or a quick reference version is available here.
For individuals living with DM and caregivers
MDF Toolkit: This comprehensive toolkit includes valuable information for people living with myotonic dystrophy and their families as well as resources for medical professionals. The toolkit explains the genetics, diagnosis, symptoms, care management, and more covering all forms and manifestations of DM.
Congenital muscular dystrophies (CMD)
International Standard of Care Consensus
Despite rapid progress in research leading to a better understanding of condition mechanisms, there is a great deal of variation in the care that people with congenital muscular dystrophy receive. This can be attributed to two main causes: (1) congenital muscular dystrophies are rare disorders, and (2) the clinical signs and symptoms are overlapping and can be difficult to distinguish. Clinicians who care for people with neuromuscular disorders do not always have the necessary expertise to recognise and differentiate the different types of congenital muscular dystrophy. Therefore, the International Standard of Care Consensus was developed in 2010. Although these are over a decade old, no recent updated standards of care have been published. Click here to access the Consensus Statement on Standard of Care for Congenital Muscular Dystrophies, which can be shared with your medical specialist.
CMD Family Guide
The CMD Family Guide – ‘translates’ the full academic publication into a form that is more readily understandable to non-specialists and will enable families to have a clear guideline that they can use to discuss their care with their care providers. The treatment guidelines are based on medical management recommendations by a group of 82 international experts from 7 medical sub-specialties: pathology, neurology, pulmonary/ICU care, gastrointestinal/nutrition/ speech/oral care, orthopaedics/rehabilitation, cardiology, and palliative care.
Facioscapulohumeral muscular dystrophy (FSHD)
This guideline addresses the following issues related to FSHD 1: factors that are associated with or predict loss of clinically meaningful milestones (for example, loss of independent ambulation), frequency of respiratory abnormalities, cardiac abnormalities, retinal disease, hearing loss, and pain, and discusses if interventions improve outcomes relevant to people living with the condition. Click here to read the evidence-based guideline summary: Evaluation, diagnosis, and management of FSHD.
Dutch 2018 guidelines for FSHD for patients and their families
You can view a direct translation of Dutch guidelines on the care of people with FSHD for patients and their families here.
The topics in the guidelines and the questions they raised were identified by a panel of patients, patient representatives and medical experts on the management of the condition. The topics cover areas where it was felt there were gaps in agreed answers in published literature. The panel formulated recommendations drawn from their extensive experience in managing the condition. These are, to some extent, specifically written for and applicable to the Dutch health care system. However, they may still be of interest to you. The recommendations in the guidelines are an ongoing project in the Netherlands. Again, we wish to stress that this information is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Disclaimer: Please note that MDI shares information about neuromuscular conditions. We do not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.