Myotonic Dystrophy Toolkits, Publications & Resources

The Myotonic Dystrophy Foundation (MDF) publishes resources for people living with myotonic dystrophy (DM), their families, their providers, and others involved in their care or concerned with their safety, health, and happiness.

Please email MDF at info@myotonic.org to request any publication available in print.

For Individuals Living with DM & Caregivers

These publications are for a general audience to help understand the condition and various aspects of life with DM.

*New* Myotonic Dystrophy and the Heart: A Community Guide: For individuals living with myotonic dystrophy, heart or “cardiac” issues can pose a serious threat to their health. Since the heart is itself a muscle, people living with myotonic dystrophy type 1 (DM1) or type 2 (DM2) can experience cardiac issues. This resource aims to help people living with DM understand heart health risks and how they are managed.

Spanish - *NUEVO* La Distrofia Miotónica y el Corazón: Una guía para la comunidad

*New* Myotonic Dystrophy and Mental Health Handbook: This handbook aims to provide information on many of the ways mental health can be impacted by DM. Although DM has the potential to impact cognitive health and development, this resource emphasizes the social and emotional impact of the disease. We hope to give the reader an overview of possible mental health issues that may affect people living with DM and potential resources.

*New* Exercising with Myotonic Dystrophy Infographic: Exercise may help optimize function and maintain strength in people living with myotonic dystrophy. This one page summary sheet outlines ideas for finding motivation, monitoring your exercise, and adding movement to your daily life.

MDF Toolkit: This comprehensive guide for individuals with DM and their families was created by MDF staff & volunteers under the guidance of the MDF Scientific Advisory Committee. The 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. Click here to order a print copy of the English version of the MDF Toolkit!

The Toolkit contains a health supervision checklist and is available in the following languages:

MDF Medical Alert Card: Patients with myotonic dystrophy often exhibit adverse reactions to sedatives, anesthetics, and neuromuscular blocking agents. Serious complications and fatalities can be avoided by careful preoperative assessment, avoidance of certain drugs, careful monitoring and good postoperative patient care throughout their hospitalization. Ensure your emergency responders follow these critical guidelines with the MDF Medical Alert Card!

MDF My Clinic Visit Planner: This planner enables families to discuss upcoming clinic visits and jot down important questions and information to help ensure it is covered at the appointment.

Spanish - Planificador de Visita Médica: Llevar contigo a la cita con tu doctor.

Family Letter: These letters to newly diagnosed families were written by clinicians at the University of Iowa to describe DM, how it is inherited, the risks associated with the condition, and how to get testing if desired. We encourage you to provide a copy of this letter to your physician.

Going to School with Myotonic Dystrophy: A Guide to Understanding Special Education and IDEA: This comprehensive resource helps parents and family members take advantage of the Individuals with Disabilities Act (IDEA) that governs programs and services for children living with disorders like myotonic dystrophy. The Guide covers services and mandates for ages newborn through 21, and provides guidance, tips and resources for parents and caregivers of children living with congenital and childhood-onset myotonic dystrophy. MDF community members use the Guide to create the best possible experience for their children as they transition from pre-school to primary and secondary education, and into young adulthood. Download the short Guide to Myotonic Dystrophy for School Professionals.

Exercise Guide for Individuals with Myotonic Dystrophy: This guide is written by two physical therapists specialized in working with individuals living with DM, and includes information on the benefits of exercise for DM, recommendations on aerobic activity, types of exercise, monitoring exercise, exercise strategies and finding motivation.

Spanish - Guía de ejercicios para personas con distrofia miotónica

Health Insurance Considerations for People Living with Myotonic Dystrophy in the United States: MDF created this resource to help you navigate the process of making sure your medical treatments and medications are covered, and how to appeal your claim if it is denied. We hope that this guide will enable you to advocate for the delivery of healthcare services and treatments that enhance your health and well-being and that of all people living with DM.

Nutrition Guide for Individuals with Myotonic Dystrophy: This guide is written and reviewed by nutritionists specialized in working with individuals with DM, and includes information on diet and DM, managing constipation, being overweight/underweight with DM, managing swallowing problems, feeding tubes, supplements, and sample meals.

Spanish - Guía nutricional para personas con distrofia miotónica

MDF Cooks: A recipe book for those with dysphagia, other swallowing disorders, or difficulty chewing. These recipes were all submitted by MDF community members and tested by a nutritionist.

Guide for Adults Affected by Juvenile-onset (JOA) Myotonic Dystrophy and their Caregivers: This Guide was developed as part of the comprehensive Juvenile-onset Adult support program, to help improve the quality of life of those affected by juvenile-onset DM and their caregivers. This Guide is specifically designed to help families affected by juvenile-onset DM understand how to manage their lives, especially at transition points in development and education.

Applying for Social Security Disability Benefits Toolkit: To help meet the needs of people living with myotonic dystrophy who are applying for U.S. disability benefits, MDF created "Applying for Social Security Disability Benefits", a toolkit created to help you understand the process of applying for Social Security Administration (SSA) disability benefits. The toolkit was designed to assist those affected by myotonic dystrophy in navigating the application process for Social Security Disability Insurance (SSDI) benefits and Supplemental Security Income (SSI) benefits.

Employment Access Toolkit: A Guide to Navigating the Employment Process for People Living with Myotonic Dystrophy: MDF created this Toolkit to help individuals navigate the employment process and includes information on how DM can affect your job, how to assess your readiness to work, how to search and apply for a job, how to write a resume and cover letter, tips for interviewing and much more.

For Providers

These publications are for professional audiences – especially doctors and nurses – who treat and care for individuals living with DM. MDF urges families to share these resources with their providers.

Practical Suggestions for the Anesthetic Management of a Myotonic Dystrophy Patient

Anesthesia Guidelines: Regardless of the form of DM or the severity of DM symptoms experienced, you can have severe and life-threatening reactions to anesthesia and should be monitored carefully whenever anesthesia is administered.
- Download the short one-page Anesthesia Quick Reference Guide to share with your clinician and anesthesiologist.
Anesthesia Guidelines for Japan: View the Practical Guideline for Dystrophia Myotonica (DM) 2020, © Societas Neurologica Japonica, 2020, Published by Nankodo Co., Ltd., Tokyo, 2020.
German - Praktische Hinweise für das Narkose-/Anästhesie Management eines Patienten mit Myotoner Dystrophie Typ 1. Translated in partnership with DGM, the German Society for Muscle Diseases.
Spanish - Recomendaciones para el Manejo de la Anestesia en los Pacientes con Distrofia Miotónica. Traducido en colaboración con Dres Adolfo López de Munain y Juan J Vilchez.

Respiratory Care Recommendations for Myotonic Dystrophy Patients During the COVID-19 Pandemic

Respiratory Care Recommendations for Myotonic Dystrophy Patients During the COVID-19 Pandemic: We understand that this is a very challenging time and we would like to provide tips for patients, caregivers, and medical providers on the use of noninvasive positive pressure ventilation (NIPPV) if you have been exposed to this virus or have symptoms of COVID-19 infection. Please remember to follow CDC guidelines to help stay healthy and to first call or use telemedicine if you have questions for your doctor. Learn more about the recommendations here.
French - Assistance pulmonaire pour les patients atteints de dystrophie myotonique durant la pandémie de COVID-19: Les directives spécifiques pour les patients atteints de dystrophie myotonique et leurs médecins en cas d’infection par COVID-19, crées par MDF et traduites par NMD4C.

Clinical Care Recommendations for Adults with Myotonic Dystrophy Type 1

Clinical Care Recommendations for Children with Myotonic Dystrophy Type 1

English - Consensus-based Care Recommendations for Congenital or Childhood-onset Myotonic Dystrophy Type 1 and Quick Reference Guide
Spanish - Recomendaciones por consenso para el cuidado de niños con distrofia miotónica tipo 1
Swedish - Konsensusbaserade vårdrekommendationer för barn med myotonisk Dystrofi Typ 1 and Quick Reference Guide

Clinical Care Recommendations for Adults with Myotonic Dystrophy Type 2

English - Consensus-based Care Recommendations for Adults with Myotonic Dystrophy Type 2 and Quick Reference Guide
German - Konsensbasierte Behandlungsempfehlungen für erwachsene Patienten mit Myotoner Dystrophie Typ 2
Spanish - Recomendaciones por consenso para el cuidado de adultos con distrofia miotónica tipo 2 and Spanish Quick Reference Guide

Clinical Care Recommendations for Cardiologists Treating Adults with Myotonic Dystrophy Type 1

Clinical Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1

Occupational Therapy Suggestions for the Management of a Myotonic Dystrophy Patient

Occupational Therapy Guidelines: A quick reference excerpt for clinicians from the full MDF Toolkit (see link above). Occupational therapy is a health profession focused on enabling people to participate in activities of daily living that give meaning and purpose to their lives.

The Role of Physical Therapy in the Assessment and Management of Individuals with Myotonic Dystrophy

Physical Therapy Guidelines: Most individuals living with myotonic dystrophy (DM) will probably first encounter a physical therapist in the multidisciplinary clinic where they receive care. These Physical Therapy Guidelines for DM address the role that the physical therapist plays in DM care, including evaluation, education, instructions and physical movement recommendations.
Spanish - El papel de la fisioterapia en la evaluación y manejo de personas con distrofia miotónica.

Care Guidelines for Speech and Language Pathologists Treating Adults and Children with Myotonic Dystrophy

Speech and Language Pathologists Guidelines: This guide is written and reviewed by an international group of speech and language pathologists who are specialized in working with adults and children with DM. The guidelines include information on assessment, diagnosis, and therapy for speech, swallowing and language needs related to DM.

Clinical Recommendations for People of Pregnancy Potential with Myotonic Dystrophy

Clinical Recommendations for People of Pregnancy Potential with Myotonic Dystrophy: This resource is designed to provide clinicians with an overview of risks and care recommendations for individuals living with myotonic dystrophy (DM) who are pregnant or considering pregnancy. Because DM is a highly variable and multi-systemic disease, it is important to conduct individual risk assessments on a case-by-case basis. Additionally, due to the myriad manifestations and severities of DM, this document describes a variety of outcomes that may or may not be applicable to a patient.
Spanish - Recomendaciones clínicas para personas con distrofia miotónica en edad fértil

Other Publications

*NEW* The Myotonic Dystrophy Foundation (MDF) facilitated the translation of Dr. Hans Steinert’s initial descriptions of patients with myotonic dystrophy. This work was originally published in Steinert’s native language German. Click here to read the Steinert Translation in English! The pdf contains the translation, designated as draft as figures, legends, and references are not translated and the language itself has not been “modernized”, followed by the original article in German.

*NEW* ACMG TECHNICAL STANDARD: Myotonic dystrophy type 1 testing, 2024 Revision: The American College of Medical Genetics’ (ACMG) Technical standards are educational resources for clinical laboratory geneticists. This DM1 guideline updates the standards for myotonic dystrophy type 1 (DM1) originally published in 2009 and reaffirmed in 2015. Click here to read a summary of this ACMG Technical Standard and the updates made in the 2024 revision.

The Facts: Myotonic Dystrophy, by Prof. Peter Harper, published by Oxford University Press, 2002. This hundred-page book is written in easy-to-understand language for families affected by myotonic dystrophy. It’s a good place to begin educating yourself. Available online at Oxford University Press or Amazon.com.

Les Faits (version française / French version)
I Fatti (versione italiana / Italian version)
Os Factos (versão em português / Portuguese version)
Los Hechos (versión española / Spanish version)

Myotonic Dystrophy – Present Management, Future Therapy, edited by Prof. Peter Harper, published by Oxford University Press, 2004. This 240-page book written by DM experts from around the world is geared to medical professionals. It includes highly technical descriptions and is a good book to take to medical appointments as specific symptoms arise.

Myotonic Dystrophy, 3rd Edition, by Prof. Peter Harper, published by W.B. Saunders, 2001. This 400-page book on DM is written for medical professionals. The descriptions are highly technical.

Genetic Instabilities and Neurological Diseases, 2nd ed., by Robert D. Wells and Tetsuo Ashizawa, published by Elsevier Academic Press, 2006. This book is written for medical professionals and the descriptions are highly technical.

For Researchers, Industry, Policymakers & Others Seeking to Understand the Needs of the DM Community

The Christopher Project Report: Report to the Myotonic Dystrophy Community: In order to better understand their needs, the Christopher Project asked patients with myotonic dystrophy and their family members/caregivers to report directly on their own experiences, from their own perspective, as experts in their own right. This report complements existing research and offers important, new insight into the myotonic dystrophy experience. Download the Christopher Project Overview and Highlights presentation. (.PPTX) Click here to watch the 2022 Ask-the-Expert webinar featuring key findings from the Christopher Project.

MDF Publishes Article in Therapeutic Innovation and Regulatory Science - This publication generated by MDF, titled "Patient-Centered Therapy Development for Myotonic Dystrophy: Report of MDF–Sponsored Workshop (pdf)," was published in Therapeutic Innovation and Regulatory Science. The report examines the status of biomarker, endpoint and clinical trial design for myotonic dystrophy therapy development, and lays the groundwork for the inclusion of the patient and caregiver voice in DM therapy development. It also includes a report on the Benefits and Risks Study MDF conducted with Silicon Valley Research Group.

MDF Releases Voice of the Patient Report on the Myotonic Dystrophy Patient-Focused Drug Development Externally-Led Meeting - This report summarizes patient and caregiver input on the disease burden of myotonic dystrophy types 1 and 2, and what specific symptoms most impact their daily lives. It also provides patient and caregiver perspectives on what clinically meaningful benefits would be for future DM therapies. Access the DM Voice of the Patient Report and the FDA submission letter. Watch videos of the meeting here and here.

Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019. This study interrogated health insurance claims data to explore the clinical experience, healthcare resource utilization (HCRU), and all-cause costs for DM.