consensus-based care recommendations for adults …...shannon venance, md, phd, aparajitha verma,...

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Consensus-based care recommendations foradults with myotonic dystrophy type 1Tetsuo Ashizawa, MD, Cynthia Gagnon, PhD, William J. Groh, MD, MPH, Laurie Gutmann, MD,

Nicholas E. Johnson, MD, Giovanni Meola, MD, Richard Moxley III, MD, Shree Pandya, DPT, Mark T. Rogers, MD,

Ericka Simpson, MD, Nathalie Angeard, PhD, Guillaume Bassez, MD, PhD, Kiera N. Berggren, MA, MS,

Deepak Bhakta, MD, Marco Bozzali, MD, Ann Broderick, MD, MS, Janice L.B. Byrne, MD, Craig Campbell, MD,

Edith Cup, PhD, John W. Day, MD, PhD, Elisa De Mattia, PT, Denis Duboc, MD, Tina Duong, MPT, PhDc,

Katy Eichinger, PhD, Anne-Berit Ekstrom, MD, PhD, Baziel van Engelen, MD, PhD, Belen Esparis, MD,

Bruno Eymard, MD, Marla Ferschl, MD, Shahinaz M. Gadalla, MD, PhD, Benjamin Gallais, PhD,

Todd Goodglick, MD, Chad Heatwole, MD, James Hilbert, MS, Venessa Holland, MD, MPH,

Marie Kierkegaard, PhD, Wilma J. Koopman, NP, PhD, Kari Lane, RD, Daphne Maas, PT, MSc, Ami Mankodi, MD,

Katherine D. Mathews, MD, Darren G. Monckton, PhD, David Moser, PhD, Saman Nazarian, MD, PhD,

Linda Nguyen, MD, Peg Nopoulos, MD, Richard Petty, MD, Janel Phetteplace, MS, Jack Puymirat, MD, PhD,

Subha Raman, MD, Louis Richer, PhD, Elisabetta Roma, MD, Jacinda Sampson, MD, PhD,

Valeria Sansone, MD, PhD, Benedikt Schoser, MD, Laurie Sterling, MS, Jeffrey Statland, MD,

S.H. Subramony,MD, Cuixia Tian,MD, CareniñaTrujillo, RN,MSN,Gordon Tomaselli,MD, Chris Turner,MD, PhD,

Shannon Venance, MD, PhD, Aparajitha Verma, MD, Molly White, MA, and Stefan Winblad, PhD on behalf of

the Myotonic Dystrophy Foundation

Neurology: Clinical Practice December 2018 vol. 8 no. 6 507-520 doi:10.1212/CPJ.0000000000000531

Correspondence

Dr. White

[email protected]

AbstractPurpose of reviewMyotonic dystrophy type 1 (DM1) is a severe, progressive geneticdisease that affects between 1 in 3,000 and 8,000 individualsglobally. No evidence-based guideline exists to inform the care ofthese patients, andmost do not have access to multidisciplinary carecenters staffed by experienced professionals, creating a clinical caredeficit.

Recent findingsThe Myotonic Dystrophy Foundation (MDF) recruited 66 in-ternational clinicians experienced in DM1 patient care to developconsensus-based care recommendations. MDF created a 2-step methodology for the project usingelements of the Single Text Procedure and the Nominal Group Technique. The process generateda 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinicalcare recommendations for 19 discrete body systems and/or care considerations.

SummaryThe resulting recommendations are intended to help standardize and elevate care for thispatient population and reduce variability in clinical trial and study environments.

Described as “one of the more variable diseases found in medicine,”myotonic dystrophy type1 (DM1) is an autosomal dominant, triplet-repeat expansion disorder that affects somewherebetween 1:3,000 and 1:8,000 individuals worldwide.1 There is a modest association between

Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article atNeurology.org/cp.

The Article Processing Charge was funded by the Myotonic Dystrophy Foundation.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloadingand sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. 507

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increased repeat expansion and disease severity, as evidencedby the average age of onset and overall morbidity of thecondition. An expansion of over 35 repeats typically indicatesan unstable and expanding mutation. An expansion of 50repeats or higher is consistent with a diagnosis of DM1. DM1is a multisystem and heterogeneous disease characterized bydistal weakness, atrophy, and myotonia, as well as symptomsin the heart, brain, gastrointestinal tract, endocrine, and re-spiratory systems. Symptoms may occur at any age. Theseverity of the condition varies widely among affected indi-viduals, even among members of the same family.

Comprehensive evidence-based guidelines do not currentlyexist to guide the treatment of DM1 patients. As a result, theinternational patient community reports varied levels of careand care quality, and difficulty accessing care adequate tomanage their symptoms, unless they have access to multi-disciplinary neuromuscular clinics.

Consensus-based care recommendations can help standard-ize and improve the quality of care received by DM1 patientsand assist clinicians who may not be familiar with the sig-nificant variability, range of symptoms, and severity of thedisease. Care recommendations can also improve the land-scape for clinical trial success by eliminating some of theinconsistencies in patient care to allow more accurate un-derstanding of the benefit of potential therapies.

MethodsThe Myotonic Dystrophy Foundation (MDF) recruitedclinicians from the United States, United Kingdom, Canada,and Europe who have experience in the treatment of indi-viduals living with DM1 to develop consensus-based carerecommendations.

The project included a Steering Committee of 10 and a totalWorking Group of 66 clinical professionals, with additionalsupport from the US Centers for Disease Control and Pre-vention and the services of a facilitation firm, InteractionAssociates (San Francisco), that provided the meeting facil-itation necessary to execute the Nominal Group Techniqueportion of the methodology. MDF provided project design,development, and management support.

To streamline the project timeline and lower project cost,MDF developed a 2-phased, consensus-building method-ology using components of the Single Text Procedure2 and

the Nominal Group Technique.3–5 These facilitationapproaches were selected because they could be effectivewithin the context of the limited clinical care data availablefor DM1, the clinical content already available, and thecomplexities of working across a large, multinational groupof experts.

The Working Group was divided into 8 Study Area sub-committees, each led by a Steering Committee chair whoidentified members for his or her Study Area. The StudyAreas were each assigned several body systems affected bymyotonic dystrophy.

Working Group subcommittee members began theconsensus-building project by creating the backgroundreading lists for their Study Areas. These reading lists wererefined as the project moved forward, and the Study Area listsserve as the bibliography for the final Consensus-basedRecommendations.

The Single Text Procedure, using a single document asa starting point to incorporate the input and contributions ofstakeholders, was used to begin the consensus-building effort.In this process, stakeholders add, subtract, and refine a drafttext that becomes the foundation for a final ratifieddocument.

Working with MDF, Margaret Wahl, RN, organized the draftdocument, drawing substantially from care content in theMDF Toolkit developed by the MDF’s Scientific and Med-ical Advisory Committee, as well as several other keyreferences.6–9 MDF circulated the draft document toWorking Group members, along with other materialsdesigned to help coordinate the editing and revision process.Working Group members read the draft content for theirStudy Areas and provided Study Area-specific recom-mendations. MDF aggregated all the revisions and sugges-tions into a single updated document. Recommendations inconflict were circulated to the group for discussion and re-solved through serial conference calls.

The Steering Committee reviewed the aggregated document,offered revisions, and then returned it to the full WorkingGroup. This process was repeated until the Steering Com-mittee and Working Group achieved consensus.

Sixty-six Steering Committee and Working Group membersthen met for a face-to-face summit that involved the secondphase of the project, the Nominal Group Technique.

The Nominal Group Technique is a face-to-face, structuredgroup meeting led by an experienced facilitator. Participantsengage in a serial discussion of each revised, updated, ornewly-generated recommendation led by the facilitator.MDF engaged 7 professional facilitators from InteractionAssociates to drive consensus building in Study Area sub-committee meetings at the summit.

Comprehensive evidence-based

guidelines do not currently exist to

guide the treatment of DM1 patients.

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MDF then created an updated document aggregating thechanges from the facilitated discussions, and the full WorkingGroup went through the same facilitated process again withthe new document, which concluded the Nominal GroupTechnique portion of the process.

MDF then created a postsummit, updated document basedon full-group feedback at the meeting. This version was usedto conduct a final series of rounds of edit solicitation andupdated document review through email and conference call.These efforts led to the final consensus-based care recom-mendations and Quick Reference Guide for Adults withDM1, which were completed in mid-2017. The Quick Ref-erence Guide is provided as an appendix, and the full docu-ment is available online (appendix e-1, links.lww.com/CPJ/A53). Both feature flowcharts and other infographics for easeof use.

ResultsSee full recommendations at Neurology.org/cp.

Life threatening symptoms—Clinicalcare recommendations� Surgery, anesthesia, and pain

s See MDF’s Practical Suggestions for the AnestheticManagement of a Myotonic Dystrophy Patient(myotonic.org/clinical-resources) for anesthesia risksand recommendations before any surgeries orprocedures requiring anesthesia.

s DM1 patients have adverse reactions to medicationsused for anesthesia and analgesia, including opioids;interactions of the cardiac, respiratory, muscle, andCNS manifestations in each DM1 patient can lead toa variety of untoward responses, including mortality,before, during, and after surgery.

s Serious adverse events to anesthesia and opioids canoccur throughout the course of DM1 and have beenreported in patients whose DM1 symptoms were mild.

s Intellectual impairment, cognitive dysfunction, and/or hypersomnolence may adversely affect thepatient’s ability to re-emerge from anesthesia.Include premorbid cognitive or intellectual dysfunc-tion as part of preoperative assessment preopera-tively (if nonemergency intervention) because thesemanifestations along with preoperative sleep depri-vation can complicate the patient’s immediatepostoperative care and long-term recovery.

s Most serious complications occur in the postanes-thesia period.

s See full recommendations at myotonic.org/clinical-resources.

� Respiratory symptomss Pulmonary complications are the leading cause ofdeath in DM1 patients. Clinicians must monitor issuessuch as recurrent pneumonia at baseline and serially

(±6 months), with pulmonary function tests, at leastforced vital capacity (FVC).

sRefer DM1 patients with respiratory symptoms includingineffective cough (normal peak expiratory cough flow rateis >270 L/min), respiratory insufficiency, recurrentpulmonary infections, prominent snoring, maximal in-spiratory pressure is <60 cm H2O or FVC values of 50%less than predicted normal values to a pulmonologistknowledgeable in neuromuscular disorders.

s Vaccinate for pneumonia and flu; treat respiratoryinfections quickly and use cough assistance andmechanical ventilation as needed along with obtainingconsultations from respiratory therapy and pulmo-nary medicine groups.

s Some patients will eventually require either nighttimeventilator support or full-time ventilation. Mostpatients with chronic respiratory insufficiency re-spond to noninvasive ventilatory support (NIV).Patients experiencing acute respiratory failure requireendotracheal intubation with positive pressureventilation.

s For chronic respiratory insufficiency, use supplemen-tal oxygen with caution and in conjunction with NIV(see Surgery, anesthesia, and pain).

sIf surgery is planned, reassess clearance capacity if needed,possible adaptation to NIV or cough assistance.


� Cardiovascular symptomss Cardiac complications are the second leading cause ofdeath in DM1.

s The most common cardiac issues are arrhythmias(sinus bradycardia, heart block, atrial fibrillation andflutter, and ventricular tachycardia).

s Palpitations, chest pain, dyspnea, orthopnea, light-headedness, and syncope warrant cardiac investigation.

s Significant cardiac involvement that subsequently leadsto adverse cardiac events is often asymptomatic.

s Impulse—conduction abnormalities on a standard12-lead ECG including sinus rate <50 BPM, PRinterval >200 ms, QRS duration >100 ms, leftanterior or posterior fascicular block, abnormal Q-waves, atrial tachycardia, fibrillation, or flutter, andventricular arrhythmias are indicative of cardiacinvolvement.

s Refer patients with cardiac symptoms, abnormalannual or biennial ECG indicative of cardiac in-volvement, and patients aged above 40 years withoutprevious cardiac evaluation to a center experienced inDM1 care.

s Cardiology referral for all DM1 patients is reasonableif part of a multidisciplinary program or if thepractitioners providing primary care are uncomfort-able assessing cardiac history, examination, or ECG.


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� Pregnancy and obstetric managements Women with DM1:

nHave increased risk of miscarriage, preterm delivery,and respiratory insufficiency during pregnancy(especially in the 3rd trimester) and failed laborduring delivery; extreme care should be taken withanalgesics and sedating anesthetic drugs (see MDF’sPractical Suggestions for the Anesthetic Management ofa Myotonic Dystrophy Patient [myotonic.org/clinical-resources]).

n Should consult with a high-risk obstetrics andgynecology (OBGYN) care provider before de-livery and obtain ongoing antenatal care.

n Fatigue rapidly during labor and are at risk ofpostpartum hemorrhage, particularly after pro-longed first or second stage or if there has beenpolyhydramnios.

n Should be induced only at direction of obstetricianand after all necessary consultants assisting with thedelivery are notified.

s Sexually active patients with DM1:n Should be referred to genetic counseling and familyplanning services if of child-bearing age.

n Should receive parental counselling for prenatalgenetic diagnosis or discussion of preimplantationgenetic diagnosis.

s Include a pediatric or neonatal specialist present atdelivery; intensive neonatal care is recommended forneonates that may have DM1; anticipate need forfeeding tube and ventilator support.n Access to a pediatric or neonatal specialist isrecommended even if the fetus is known to beunaffected.


Severe symptoms and conditions—Clinicalcare recommendations� Skeletal muscle weakness and rehabilitation

s Evaluate annually for:n Swallowing and speech difficultiesn Mobility, balance, and fallsn Activities of daily life—including self-caren Activities in home, school, work, and community.

s Refer to specialists, including physical therapists(PTs), occupational therapists (OTs), speechpathologists, dieticians, social workers, and others.

s Encourage moderate intensity (aerobic and resistancetraining) exercise.

s See Role of Physical Therapy in the Assessment ofIndividuals with Myotonic Dystrophy at myotonic.org/clinical-resources.


� Skeletal muscle myotonias Myotonia can cause muscle stiffness, prolonged handgrip, pain, and speech and swallowing difficulties.

s Mexiletine or other antimyotonia medications may beconsidered for myotonia treatment. Mexiletine iscontraindicated for DM1 patients with cardiac in-volvement. See full recommendations regardingmexiletine at myotonic.org/clinical-resources formore information on cardiac implications.

� Ocular symptomss Relevant eye manifestations of DM1 include cataracts(occurring in most patients), strabismus, and otherocular motility problems, myopia, and astigmatism incongenital and juvenile-onset patients.

s Recommend annual eye examination, including slit-lamp eye examination.

s Advise patient on safety measures regarding adjustingto changes in light (from dim to bright) while driving,especially at night, related to the effects of cataracts,and on protecting the cornea, especially as weaknessof the face (due to m. orbicularis oculi weakness) andeye closure muscles progress.

s Surgically remove cataracts when they interferewith activities of daily living; see Surgery, anesthe-sia, and pain control section regarding anesthesiarisk.

s Consider ophthalmic lubricants for dry eye, typicallycaused by m. orbicular oculi weakness affecting eyelidsand cornea.

s Consider eyelid crutches before surgery for ptosis (dueto m. levator palpebrae weakness); see Surgery,anesthesia, and pain control.


� Gastrointestinal symptomss Ask about problems with chewing, swallowing,drooling, reflux, bloating, abdominal pain, bowelmovement frequency and characteristics, diarrhea,and incontinence.

s Physical examination should include abdominalpalpation, including around gall bladder, and rectalexamination for anal sphincter spasm and dyssynergicdefecation for symptomatic patients.

s DM1 patients are at risk for pseudo-obstruction andexperience other problems that may cause actualobstruction of small or large intestine, includingendometriosis, acute gallbladder inflammation, rup-tured ovarian cysts, sigmoid volvulus. Monitorpotential obstructions to determine whether theyare pseudo or actual and treat accordingly.

s Nonmedical interventions:n High-fiber diet for diarrhea or constipation; increasewater intake

n Nutritional supplement for weight loss, weight gain,or dysphagia

n Dysphagia therapy referral for oral pharyngealdysphagia.

s Medical interventions:n Loperamide for diarrhea controln Laxatives for constipation






http://myotonic.org/sites/default/files/Physical%20Therapy%20FINAL.pdf

http://myotonic.org/sites/default/files/Physical%20Therapy%20FINAL.pdf









� First-line therapy: MiraLAX, Senna, Ducusate,or Linaclotide

� Second-line therapy: Bisacodyl, Lubiprostone,Linaclotide

n Avoid oils—if the above fails, refer out for analmanometry

n Metoclopramide for gastroparesis, pseudo-obstruction, reflux

n Antibiotics for bacterial overgrowth-induced di-arrhea (based on breath testing)

n Enteral feeding only for recurring pneumonia orsevere dysphagia causing weight loss or causinginability to swallow safely without recurrentaspiration

n Mexiletine can be considered to treat diarrhea orconstipation. Mexiletine is contraindicated forDM1 patients with cardiac involvement. See fullrecommendations regarding mexiletine at myo-tonic.org/clinical-resources for more informationon cardiac implications.


� Neuropsychiatric symptomss Advise patients that DM1 is also a “brain disorder”that can involve cognitive deficits and changes incognition over time.

s Include psychiatric and behavioral examination atbaseline, and during regularly scheduled follow-upappointments or when symptoms appear; considerbaseline MRI to assess DM1-related abnormalities(e.g., fluid-attenuated inversion recovery hyperinten-sities, particularly in the temporal poles, and dilatedperivascular spaces, often colocalizing) and track overtime.

s Refer patients with psychiatric or behavioral disorders,those with late-onset phenotype, and patients withcognitive complaints to mental health care pro-fessional for testing and follow-up; patients may havelimited insight into these issues—consider input frompartners and family members as appropriate.

s DM1 patients with a late-onset phenotype can exhibitfast decline in certain cognitive functions.


� Psychosocial symptomss Assess patient’s social circumstances in household;consider and be aware of possible child neglect, acutefinancial need, unsafe driving, unsafe or unsanitaryhome; refer to social services, support programs, andorganizations.

� Excessive daytime sleepiness (EDS) symptomss Assess for EDS with the Epworth Sleepiness Scale ora similar standardized questionnaire instrument;prescribe sleep study if sleep disturbance is suspected.

s Monitor periodic limb movements (muscle activityduring sleep), as well as EEG, and respiratory

measures during sleep study to assess possibleobstructive sleep apnea and CNS mediated sleepapnea.

s Refer to a pulmonologist and/or sleep specialist if EDSscores are positive on scales.

s Question patients re: alcohol or caffeine consumption,medications, and sleep habits for contribution to EDS.

s Evaluate the effect of possible respiratory muscleweakness (FVC value sitting and supine) on thepresence of EDS.

s If nocturnal or daytime hypoventilation is suspected,consider noninvasive positive pressure ventilation,and refer to a pulmonologist with experience inneuromuscular diseases re: possible need for NIVlaunching.

s Consider modafinil for treatment if coexisting CNSalteration is suspected as the cause of EDS.

s Consider cognitive behavioral therapy or behavioraltherapy for apathy; also help treat fatigue; psychos-timulant treatment can be considered if apathy isassociated with an impairing level of fatigue or EDS.


� Endocrine and metabolic symptomss Follow criteria from the American Diabetes Associa-tion re: the type of initial testing to obtain: typically,fasting blood glucose or HbA1c and if symptomaticdiabetes is suspected.

s Consider formal glucose tolerance testing to monitorglucose control in patients; request serial measurementof HbA1c and fasting plasma glucose annually andcoordinate care with a diabetes specialist as necessary.

s Consider treating insulin resistance with lifestylechanges in diet and exercise.

s Measure liver and bilirubin levels at baseline andannually; chronic liver enzyme elevation is typical anddoes not necessarily indicate the need for obtaininga liver biopsy.

s Request thyroid stimulating hormone and circulatingthyroid hormone (thyroid-stimulating hormone[TSH] and Free T4) level tests at baseline and atleast every 3 years; more frequently if indicated.

s Test for hyperlipidemia through serum blood lipidlevels at baseline and every 3 years; more frequently ifindicated. Treat hyperlipidemia per current practice.

s Sex-specific recommendations:n Inquire about painful or irregular menstruation,ovarian cysts, endometriosis, and reproductivehistory.

n Inquire about erectile dysfunction; considerfurther workup and medications to treat erectiledysfunction. Consider possible cardiovascularrisks-side effects associated with some erectiledysfunction medications (over the counter andprescribed).

n Inquire about infertility and family planning.












� Tumorss Look for pilomatrixomas (skin tumors); refer tosurgeons for safe removal.

s Train patients to detect pilomatrixomas (small, a hardlump under the skin on the head, neck, arms, torso,and legs).

s Follow general population cancer screening guidelines,particularly for breast, testicular, cervical, and coloncancer.

s Evaluate suspicious new CNS, abdominopelvic, andthyroid symptoms for possible cancer; considercancers of the brain, uterus, and ovary.


ConclusionsThe recommendations in this study are intended to lead tomore informed and prepared clinical professionals and morereadily available and high-quality care for affected families.The Consensus-based Care Recommendations support aninternational clinical trial environment that is better preparedto successfully assess the effectiveness of the potential therapies.The 2-step methodology used to drive this consensus-buildingprocess enabled a streamlined and relatively low-cost medicalguideline development process, resulting in care recom-mendations available to clinicians in a timely manner.

Author affiliationsStanley H. Appel Department of Neurology (TA), HoustonMethodist Neurological Institute, TX; Centre de RechercheCharles-Le-Moyne Saguenay-Lac-St-Jean sur les Innovationsen Sante (CG), Universite de Sherbrooke, Jonquiere,Quebec, Canada; Department of Clinic Medicine (WJG),Medical University of South Carolina; Ralph H. Johnson VAMedical Center (WJG), Medical University of South Caro-lina, Charleston; Department of Neurology (LG), Universityof Iowa; Department of Neurology (NEJ), Virginia Com-monwealth University, Richmond; Department of Bio-medical Sciences for Health (GM), University of Milan;Department of Neurology (GM), IRCCS Policlinico SanDonato, Milan, Italy; Department of Neurology (RM, SP),University of Rochester; Institute of Medical Genetics

(MTR), University Hospital of Wales, Cardiff, UK; De-partment of Neurology (ES), Houston Methodist Neuro-logical Institute, TX; UMR 1129 (NA), INSERM & ParisDescartes University, Sorbonne Paris Cite; Institute of My-ology (NA), Pitie-Salpetriere Hospital, Paris, France; UniteClinique de Pathologie Neuromusculaire (GB), Institut deMyologie, Paris, France; Department of Pediatrics (KNB),University of Utah, Salt Lake City; Krannert Institute ofCardiology (DB), Indiana University, Indianapolis; De-partment of Neuroscience (MB), Brighton and SussexMedical School, University of Sussex, Brighton, UK; Neu-roimaging Laboratory (MB), IRCCS Santa Lucia Founda-tion, Rome, Italy; Hospice and Palliative Care Program(AB), Iowa City VA Medical Center; Maternal-Fetal Medi-cine (JLBB), Clinical Genetics, Obstetrics & Gynecology,University of Utah, Salt Lake City; Department of Paediat-rics and Clinical Neurological Sciences (CC), University ofWestern Ontario, London, Canada; Department of Re-habilitation (EC), Radboud University Medical Center,Nijmegen, The Netherlands; Department of Neurology andPediatrics (JWD), Stanford University, Palo Alto, CA; TheNEMO Clinical Center (EDM), Fondazione Serena, Milan,Italy; Department of Cardiology (DD), Cochin Hospital,Paris-Decartes University, France; School of Medicine(TD), Stanford University, Palo Alto, CA; Department ofNeurology (KE), University of Rochester, NY; RegionalPediatric Rehabilitation Center (A-BE), Queen SilviaChildren’s Hospital, Gothenburg, Sweden; Department ofNeurology (BvE), Radboud University Medical Center,Nijmegen, The Netherlands; Department of Medicine(B. Esparis), Sleep Disorders Center, Mount Sinai MedicalCenter, Miami Beach, FL; Centre de Reference de Patho-logie Neuromusculaire Paris-Est (B. Eymard), GroupeHospitalier Pitie-Salpetriere, Institut de Myologie, France;Department of Anesthesia and Perioperative Care (MF),University of California, San Francisco; Clinical GeneticsBranch (SMG), Division of Cancer Epidemiology and Ge-netics, National Cancer Institute, National Institutes ofHealth, Rockville, MD; ECOBES (BG), Recherche ettransfert, Cegep de Jonquiere, Jonquiere, Quebec, Canada;Department of Opthalmology (TG), Georgetown Univer-sity Hospital/Medstar Washington Hospital Center, Wash-ington, DC; Department of Neurology (CH), Center forHealth and Technology (CHET), University of Rochester;Department of Neurology (JH), University of Rochester,NY; Department of Pulmonology (VH), Houston Meth-odist Neurological Institute, TX; Department of Neurobi-ology (MK), Care Sciences and Society, KarolinskaInstitutet; Function Area Occupational Therapy & Physio-therapy (MK), Karolinska University Hospital; Stockholm,Sweden; Neuromuscular Clinic (WJK), London HealthSciences Center—University Campus, London, Ontario,Canada; Department of Neurology (KL), University ofUtah, Salt Lake City; Department of Rehabilitation (DM),Radboud University Medical Centre, Nijmegen, The Neth-erlands; Hereditary Muscle Disease Unit (AM), Neuro-genetics Branch, National Institute of Neurological

The 2-stepmethodology used to drive

this consensus-building process

enabled a streamlined and relatively

low-cost medical guideline

development process.







Disorders and Stroke, NIH, Bethesda, MD; Departments ofPediatrics and Neurology (KDM), University of Iowa; In-stitute of Molecular (DGM), Cell and Systems Biology,College of Medical, Veterinary and Life Sciences, Universityof Glasgow, Scotland; Department of Psychiatry (DM),University of Iowa; Cardiac Electrophysiology (SN), TheHospital of the University of Pennsylvania, Philadelphia;Department of Gastroenterology and Hepatology (LN),Stanford University, Palo Alto, CA; Department of Psychi-atry (PN), University of Iowa; Department of Neurology(RP), NHS Greater Glasgow and Clyde, Southern GeneralHospital, United Kingdom; Department of Neurology (J.Phetteplace), University of Iowa; Departement of Neuro-logical Sciences (J. Puymirat), CHUQ-site Enfant-Jesus,Quebec, Canada; Department of Cardiovascular Medicine(SR), Ohio State University, Columbus; Departement dessciences de la sante (LR), Universite du Quebec a Chic-outimi, Canada; The NEMO Clinical Center (ER), Fonda-zione Serena, Milan, Italy; Department of Neurology (J.Sampson), Stanford University, Palo Alto, CA; The NEMOClinical Center (VS), Neurorehabilitation Unit, DepartmentBiomedical Sciences for Health, University of Milan, Italy;Friedrich-Baur-Institute (BS), Department of Neurology,Ludwig-Maximilians-University, Munich, Germany; De-partment of Speech Pathology (LS), Houston MethodistHospital, TX; Department of Neurology (J. Statland), Uni-versity of Kansas Medical Center; Department of Neurology(SHS), McKnight Brain Institute, University of Florida,Gainesville; Division of Neurology (C. Tian), CincinnatiChildren’s Hospital; Department of Neurology (CT), Uni-versity of Cincinnati, OH; Department of Neurology(C. Trujillo), University of Utah, Salt Lake City; AlbertEinstein College of Medicine (GT), New York, NY; De-partment of Medicine (GT), Division of Cardiology, JohnHopkins University, Baltimore, MD; Department of Neu-romuscular Disease (C. Turner), National Hospital forNeurology and Neurosurgery, London, United Kingdomand Department of Molecular Neuroscience (CT), Univer-sity College London, Institute of Neurology, United King-dom; Department of Clinical Neurological Sciences (SV),London Health Sciences Centre, University Hospital,Ontario, Canada; Stanley H. Appel Department of Neurol-ogy (AV), Houston Methodist Neurological Institute, TX;Myotonic Dystrophy Foundation (MW), San Francisco, CA;Department of Psychology (SW), University of Gothenburg,Sweden.

Author contributionsT. Ashizawa: Working Group Co-chair: Ocular, Malignancy &Endocrine, drafting/revising the manuscript, study concept ordesign, data acquisition, study supervision. C. Gagnon:Working Group Co-chair: Skeletal Muscle, Rehabilitation &Speech, drafting/revising the manuscript, data acquisition,study supervision. W.J. Groh: Working Group Chair: Cardiac,drafting/revising the manuscript, data acquisition, study su-pervision. L. Gutmann: Working Group Chair: End of Life

Counseling & Management, drafting/revising the manuscript,data acquisition, study supervision. N.E. Johnson: WorkingGroup Chair: Gastrointestinal, Myotonia & Pain, drafting/revising the manuscript, study concept or design, data acqui-sition, study supervision. G. Meola: Working Group Chair:Neuropsychiatry & Central Nervous System, drafting/revisingthe manuscript, data acquisition, study supervision. R. Moxley,III: Working Group Co-chair: Ocular, Malignancy & Endo-crine, drafting/revising the manuscript, study concept or de-sign, data acquisition, study supervision. S. Pandya: WorkingGroup Co-chair: Skeletal Muscle, Rehabilitation & Speech,drafting/revising the manuscript, data acquisition, study con-cept or design, study supervision. M.T. Rogers: WorkingGroup Chair: Diagnosis, OBGYN & Family Management,drafting/revising the manuscript, data acquisition, study su-pervision. E. Simpson: Working Group Chair: Respiratory,Excessive Daytime Sleepiness & Anesthesia, drafting/revisingthe manuscript, data acquisition, study supervision. N.Angeard: Working Group member: Neuropsychiatry & Cen-tral Nervous System, drafting/revising the manuscript, dataacquisition. G. Bassez: Working Group member: Ocular, Ma-lignancy & Endocrine; and Skeletal Muscle, Rehabilitation &Speech, drafting/revising the manuscript, data acquisition. K.Berggren: Working Group member: Gastrointestinal, Myoto-nia & Pain, drafting/revising the manuscript, data acquisition.D. Bhakta:WorkingGroupmember: Cardiac, drafting/revisingthe manuscript, data acquisition. M. Bozzali: Working groupmember: Neuropsychiatry & Central Nervous System,drafting/revising the manuscript, data acquisition. A. Broder-ick: Working Group member: Palliative Care & End of LifeCounseling & Management, drafting/revising the manuscript,data acquisition. J.L.B. Byrne: Working Group member: Di-agnosis, OBGYN& Family Management, drafting/revising themanuscript, data acquisition. C. Campbell: Working Groupmember: Diagnosis, OBGYN & Family Management,drafting/revising the manuscript, acquisition of data. E. Cup:Working Group member: Skeletal Muscle, Rehabilitation &Speech, drafting/revising the manuscript, data acquisition. J.W.Day: Working Group member: Diagnosis, OBGYN & FamilyManagement, drafting/revising the manuscript, data acquisi-tion. E. De Mattia: Working Group member: Respiratory,Excessive Daytime Sleepiness & Anesthesia, drafting/revisingthe manuscript, data acquisition. D. Duboc: Working Groupmember: Cardiac, drafting/revising the manuscript, data ac-quisition. T. Duong: Working Group member: Skeletal Mus-cle, Rehabilitation & Speech, drafting/revising the manuscript,data acquisition. K. Eichinger: Working Group member:Skeletal Muscle, Rehabilitation & Speech, drafting/revising themanuscript, data acquisition. A.-B. Ekstrom: Working Groupmember: Neuropsychiatry & Central Nervous System, drafting/revising the manuscript, data acquisition. B.G.M. van Engelen:Working Group member: Ocular, Malignancy & Endocrine andNeuropsychiatry & Central Nervous System, drafting/revisingthe manuscript, acquisition of data. B. Esparis: Working Groupmember: Respiratory, Excessive Daytime Sleepiness & Anes-thesia, drafting/revising the manuscript, acquisition of data. B.Eymard: Working Group member: Neuropsychiatry & Central



Nervous System, drafting/revising the manuscript, Acquisitionof data. M. Ferschl: Working Group member: Respiratory,Excessive Daytime Sleepiness & Anesthesia, drafting/revisingthe manuscript, data acquisition. S.M. Gadalla: Working Groupmember: Ocular, Malignancy & Endocrine, drafting/revisingthe manuscript, data acquisition. B. Gallais: Working Groupmember: Neuropsychiatry & Central Nervous System,drafting/revising the manuscript, data acquisition. T. Good-glick: Working Group member: Ocular, Malignancy & Endo-crine, drafting/revising the manuscript, data acquisition. C.Heatwole: Working Group member: Ocular, Malignancy &Endocrine, drafting/revising the manuscript, data acquisition. J.Hilbert: Working Group member: Ocular, Malignancy & En-docrine, drafting/revising the manuscript. V. Holland: WorkingGroup member: Respiratory, Excessive Daytime Sleepiness &Anesthesia, drafting/revising the manuscript, data acquisition.M. Kierkegaard: Working Group member: Skeletal Muscle,Rehabilitation & Speech, drafting/revising the manuscript, dataacquisition. W.J. Koopman: Working Group member: SkeletalMuscle, Rehabilitation & Speech, drafting/revising the manu-script, data acquisition. K. Lane: Working Group member:Gastrointestinal, Myotonia & Pain, drafting/revising the man-uscript, data acquisition. D. Maas: Working Group member:Skeletal Muscle, Rehabilitation & Speech, drafting/revising themanuscript, data acquisition. A. Mankodi: Working Groupmember: Gastrointestinal, Myotonia & Pain, drafting/revisingthe manuscript, data acquisition. K.D. Mathews: WorkingGroup member: Diagnosis, OBGYN & Family Management,drafting/revising the manuscript, data acquisition. D.G. Mon-ckton: Working Group member: Diagnosis, OBGYN& FamilyManagement, drafting/revising the manuscript, data acquisi-tion. D. Moser: Working Group member: Neuropsychiatry &Central Nervous System, drafting/revising the manuscript, dataacquisition. S. Nazarian: Working Group member: Cardiac,drafting/revising the manuscript, data acquisition. L. Nguyen:Working Group member: Gastrointestinal, Myotonia & Pain,drafting/revising the manuscript, data acquisition. P. Nopou-los: Working Group member: Neuropsychiatry & CentralNervous System, drafting/revising the manuscript, data ac-quisition. R. Petty: Working Group member: Diagnosis,OBGYN & Family Management, drafting/revising the manu-script, data acquisition. J. Phetteplace: Working Group mem-ber: Diagnosis, OBGYN & Family Management, drafting/revising the manuscript, data acquisition. J. Puymirat: WorkingGroup member: Ocular, Malignancy & Endocrine, drafting/revising the manuscript, data acquisition. S. Raman: WorkingGroup member: Cardiac, drafting/revising the manuscript,data acquisition. L. Richer: Working Group member: Neuro-psychiatry & Central Nervous System, drafting/revising themanuscript, data acquisition. E. Roma: Working Groupmember: Palliative Care & End of Life Counseling & Man-agement, drafting/revising the manuscript, data acquisition. J.Sampson: Working Group member: Palliative Care & End ofLife Counseling; & Gastrointestinal, Myotonia & Pain,drafting/revising the manuscript, data acquisition. V. Sansone:Working Group member: Respiratory, Excessive DaytimeSleepiness & Anesthesia, drafting/revising the manuscript, data

acquisition. B. Schoser: Working Group member: Diagnosis,OBGYN & Family Management, drafting/revising the manu-script, data acquisition. L. Sterling: Working Group member:Skeletal Muscle, Rehabilitation & Speech, drafting/revising themanuscript, data acquisition. J. Statland: Working Groupmember: Gastrointestinal, Myotonia & Pain, drafting/revisingthe manuscript, data acquisition. S.H. Subramony: WorkingGroup member: Gastrointestinal, Myotonia & Pain, drafting/revising the manuscript, data acquisition. C. Tian: WorkingGroup member: Ocular, Malignancy & Endocrine, drafting/revising the manuscript, data acquisition. C. Trujillo: WorkingGroup member: Palliative Care & End of Life Counseling &Management, drafting/revising the manuscript, data acquisi-tion. G. Tomaselli: Working Group member: Cardiac,drafting/revising the manuscript, data acquisition. C. Turner:Working Groupmember: Neuropsychiatry & Central NervousSystem, drafting/revising the manuscript, data acquisition.S. Venance: Working Group member: Skeletal Muscle, Re-habilitation & Speech, drafting/revising the manuscript, dataacquisition. A. Verma: Working Group member: Respiratory,Excessive Daytime Sleepiness & Anesthesia, drafting/revisingthe manuscript, data acquisition. M. White: drafting/revisingthe manuscript, study concept or design, Obtaining funding.S. Winblad: Working Group member: Neuropsychiatry &Central Nervous System, drafting/revising themanuscript, dataacquisition.

AcknowledgmentThe authors thankDr. Julie Bolen andNatalie Street of the USCenters for Disease Control and Prevention for invaluableadvice and Paul Formaker, Pam Lewis, and Margaret Wahl,R.N., for exemplary support.

Study fundingFunded by the Myotonic Dystrophy Foundation.

DisclosureT. Ashizawa serves on scientific advisory boards for theMyotonic Dystrophy Foundation, NIH, and National AtaxiaFoundation; has received funding for travel from Biohaven,PacBio, and NIH; receives research support from MyotonicDystrophy Foundation,National Ataxia Foundation, BiohavenPharmaceuticals, Biogen, and NIH/NINDS; he is associatedwith Weill Cornell Medical College (Professor), Baylor Col-lege of Medicine (Adjunct Professor), Central South Univer-sity, China (Guest Faculty). C. Gagnon has received speakerhonoraria from Biogen Idec; and receives research supportfrom Bioblast Pharma, Ataxia Charlevoix-Saguenay Founda-tion, Fondation de ma vie, and Fonds de dotation santeJonquiere. W.J. Groh serves on the editorial board of HeartRhythm Journal; serves as Chief of Medicine for VAMC andCardiology Physician for Medical University of South Caro-lina; and receives research support from Biogen. L. Gutmannhas received speaker honoraria from UC San Diego; receivespublishing royalties from Up-to-Date Online; and receives re-search support from Alexion, NIH, and Charcot Marie ToothAssociation. N. Johnson serves on scientific advisory boards



for Cytokinetics, AveXis, AMO Pharma, and Biogen Idec; hasreceived funding for travel and/or speaker honoraria fromStrongbridge; serves as a consultant for AMOPharma, AveXis,and Vertex Pharma; and receives research support from IonisPharmaceuticals, Biogen Idec, Valerion Therapeutics, Cyto-kinetics, Acceleron, AveXis, AMO Pharma, NIH/NINDS,FDA, Muscular Dystrophy Association, and Myotonic Dys-trophy Foundation. G. Meola reports no disclosures. R.Moxley, III serves on scientific advisory boards for NIH/NINDS and Myotonic Dystrophy Foundation; and receivesresearch support from Ionis, NIH (NCRR, NCI), FDA,Saunders Family Foundation, and Abrams Family Fund. S.Pandya receives research support from NIH and CDC. M.T.Rogers reports no disclosures. E. Simpson receives publishingroyalties forCase Files for Neurology, 3rd Edition (McGrawHill,2017); serves on speakers’ bureaus for Alexion and Grifols;and holds an endowed chair supported by philanthropicdonations. N. Angeard reports no disclosures. G. Bassez serveson scientific advisory boards for Lupin pharmaceuticals, AFM-Telethon, and Myotonic Dystrophy Foundation; serves asa consultant for Lupin pharmaceuticals; and receives researchsupport from FP7 EU, AFM-Telethon, and Myotonic dys-trophy registry. K. Berggren serves on a scientific advisoryboard for Biogen; and receives funding for travel and/orspeaker honoraria from HDSA and FSH Society. D. Bhaktareports no disclosures. M. Bozzali serves as an Associate Editorfor Journal of Alzheimer’s disease and Frontiers Cellular Neuro-science; and receives research support from the Italian Ministryof Health. A. Broderick reports no disclosures. J.L.B. Byrnereceives publishing royalties for Diagnostic Imaging: Obstetrics,3rd Edition (Elsevier, 2016). C. Campbell serves on scientificadvisory boards for Catabasis and PTC Therapeutics; andreceives research support from Valerion Pharmaceuticals,PTC Therapeutics, Pfizer, Ionis, Eli Lilly, Prosensa, ChildHealth Foundation, and Jesse’s Journey Foundation. E. Cupreceives research support from Prinses Beatrix Spierfonds andZonMw DoelmatigheidsOnderzoek. J.W. Day serves on sci-entific advisory boards for NIH, PPMD, and MarathonPharmaceuticals; has received gifts for research from familybenefactors; has served as a consultant for Biogen, Sarepta,AveXis, and Cytokinetics; has received funding for travel and/or speaker honoraria from Cytokinetics, Biogen, Roche,AveXis, Isis Pharmaceuticals, Spinal Muscular AtrophyFoundation, Parent’s Project Muscular Dystrophy, MyotonicDystrophy Foundation, American Association of Pediatrics,PPMD, Carrel-Krusen Organization, and AMO: is author ona patent re: (1) Myotonic Dystrophy type 2 genetic testingand (2) Spinocerebellar Ataxia type 5 genetic testing; serves asa consultant for Isis, Biogen, Cytokinetics, Sarepta Thera-peutics, PTC Therapeutics, AveXis, Santhera, and Pfizer;receives research support from Genzyme, Isis, Sarepta,Cytokinetics, AveXis, Biogen, Bristol-Myers, Roche, PTCTherapeutics, Wave Therapeutics, NIH/NINDS, MuscularDystrophy Association, Myotonic Dystrophy Foundation,Spinal Muscular Atrophy Foundation, and CureSMA; andreceives royalty payments for DM2 genetic testing and SCA5genetic testing from Athena Diagnostics. E. De Mattia, D.

Duboc, and T.T. Duong report no disclosures. K. Eichingerhas received funding for travel from the FSH Society and theMyotonic Dystrophy Foundation; and serves as a consultantfor Ionis Pharmaceuticals, Biogen, and Acceleron Pharma-ceuticals. A.-B. Ekstrom reports no disclosures. B.G.M. vanEngelen serves as a consultant and clinical advisor for Ful-crum; Is author on a patent re: an IBM-specific autoantibodylicensed to Euroimmun; and receives institutional supportfrom the Radboud University Medical Centre and grantsupport from European Union’s Horizon 2020 research andinnovation programme (Murab), European Union 7thFramework Programme (OPTIMISTIC), the NetherlandsOrganisation for Scientific Research (NWO), The Nether-lands Organisation for Health Research and Development(ZonMw), Global FSH, Prinses Beatrix Spierfonds, Spierenvoor Spieren, Association Francaise contre les Myopathies,and the Dutch FSHD Foundation. B. Esparis reports no dis-closures. B. Eymard has received funding for travel and/orspeaker honoraria from LFB, Biogen, and BioMarin; serves asa consultant for Sarepta Pharmaceutics; and receives researchsupport from AFM-Telethon. M. Ferschl reports no dis-closures. S.M. Gadalla serves as Editor of International Journalof Chronic Diseases; and is an employee of the NIH whosework is supported by the Intramural Program of the NationalCancer Institute. B. Gallais has received funding for travelfrom the Myotonic Dystrophy Foundation and receives re-search support from theMyotonic Dystrophy Foundation andWyck Foundation. T. Goodglick reports no disclosures. C.Heatwole serves on scientific advisory boards for Biogen; hasreceived funding for travel from Myotonic Dystrophy Foun-dation; serves as a consultant for Imedecs, Maximus, JohnsHopkins University, Biogen, Atyr, Ionis, Acceleron, Cytoki-netics, ExpansionRX, AMO, and the Marigold Foundation;receives research support from Pfizer, Technology De-velopment Fund (University of Rochester), Cure SpinalMuscular Atrophy, Amyotrophic Lateral Sclerosis Association,Huntington Study Group/NJ Cure HD Foundation, NIH(NIAMS, NINDS), and United States Food and Drug Ad-ministration; has royalties for use of the Myotonic DystrophyHealth Index (MDHI), a disease-specific patient-reportedoutcome measure for use in clinical trials and royalties fromlicensing instruments for FSHD, congenital DM1, CMT,SMA, and Huntington disease; and has participated inmedico-legal cases. J. Hilbert receives research support fromBiogen, NIH, Abrams Family Fund, FSH Society, and Friendsof FSH Research. V. Holland serves on a scientific advisoryboard for and received funding for travel from Hill Rom;contracts with the HoustonMethodist Neurologic Institute asa pulmonary specialist; serves on the speakers’ bureau forBureaus AANEM; and has served as an expert witness ina legal case regarding environmental exposures. M. Kierke-gaard serves on a scientific advisory board for OPTIMISTIC;has received funding for travel from OPTIMISTIC andMuscular Dystrophy Foundation; and receives research sup-port from Karolinska Institutet Foundation, Neuro Sweden,Einar Belven Foundation, and Reseau provincial de rechercheen adaptation. W.J. Koopman, K. Lane, and D.Maas report no



disclosures. A. Mankodi receives support from NINDSIntramural Research Funds. K.D. Mathews serves on scientificadvisory boards for NIAMS, Santhera, Sarepta, BMS, andMuscular Dystrophy Foundation; has received funding fortravel from Santhera, Sarepta, and Bristol-Meyer-Squibb;serves as a consultant for Serepta Therapeutics, Bristol-Meyer-Squibb, and Santhera; and receives research support fromPTC Therapeutics, Sarepta Therapeutics, Pfizer, Fibrogen,Roche, Intalfarmaco, Reata, Takeda, NIH Centers for DiseaseControl and Prevention, and Friedreich’s Ataxia ResearchAlliance. D.G. Monckton serves on scientific advisory boardsfor AMO Pharma, the Myotonic Dystrophy Support Group,the UK Myotonic Dystrophy Registry, and Myotonic Dys-trophy Foundation; has received finding for travel and/orspeaker honoraria from Cure Huntington Disease Initiative,European Huntington Disease Network, Muscular DystrophyUK, University of Munich, European Neuromuscular Centre,Myotonic Dystrophy Support Group, Scottish ChurchTheological Society, Oxford Global, University of Iowa, 9thInternational Unstable Microsatellites and Human DiseaseConference, Cardiff University, Vertex Pharmaceuticals,Charles River, NHS Scotland, and Biotexcel; serves as a con-sultant for AMO Pharma and Biogen Idec; receives researchsupport from AMO Pharma, NIH, Cure Huntington DiseaseInitiative, European Huntington Disease Network, MuscularDystrophy UK, Myotonic Dystrophy Support Group, Well-come Trust, and Chief Scientist’s Office (Scotland). D. Moserreceives research support from NIH/NINDS. S. Nazarian hasreceived speaker honoraria from Boston Scientific Inc.; serveson editorial boards for Heart Rhythm Journal and Circulation,Arrhythmia and Electrophysiology; serves as a consultant forBoston Scientific, ImriCor, Siemens, CardioSolv, and St JudeMedical; is a clinical cardiac electrophysiologist and occa-sionally asked to provide arrhythmia care, including electro-physiology studies, and pacemaker or ICD implantation forDM1 patients; and receives research support from Siemens,ImriCor, Biosense Webster, and NIH/NHLBI. L. Nguyenserves on a scientific advisory board for Allergan; receivespublishing royalties from Up to Date; and serves as a consul-tant for Theravance and Genentech. P. Nopoulos receivesresearch support from NIH (NIDCR, NINDS, NHLBI). R.Petty has received funding for travel from Myotonic Dystro-phy Support Group UK. J. Phetteplace serves as a consultantfor My Gene Counsel and her salary is partially fundedthrough the Muscular Dystrophy Association. J. Puymirat andS. Raman report no disclosures. L. Richer has received fundingfor travel from theMyotonic Dystrophy Foundation. E. Romareports no disclosures. J. Sampson has received funding fortravel from the Myotonic Dystrophy Foundation and hasprovided expert testimony, not related to industry. V. Sansonereports no disclosures. B. Schoser serves on scientific advisoryboards for and received funding for travel from Sanofi-Genzyme, Biomarin, Amicus Therapeutics, and AudentesTherapeutics; serves on the editorial boards forNeuromuscularDisorders and Journal of Neuromuscular Disorders and as

Section Editor: for Current Opinion in Neurology. L. Sterlingreports no disclosures. J. Statland serves on scientific advisoryboards for Sarepta, PTC, and Acceleron; has received fundingfor travel and/or speaker honoraria from Strongbridge; servesas a consultant for Acceleron, Fulcrum, Regeneron, and Ex-pansion; and receives research support from NIH/NINDSand FSH Society. S.H. Subramony receives publishing royal-ties for Handbook of Clinical Neurology (Elsevier, 2011); per-forms clinical electrophysiology (20% effort) at University ofFlorida Department of Neurology; and receives researchsupport from Inonis, Reata, Horizon, Biohaven, Pharnext,Acceleron, Medosome Biotec, NIH, US FDA, FriedreichAtaxia Research Alliance, Muscular Dystrophy Association,Myotonic Dystrophy Wyck Foundation, and National AtaxiaFoundation. C. Tian reports no disclosures. C. Trujillo serveson scientific advisory boards for Sarepta Therapeutics andBiogen. G. Tomaselli serves on a scientific advisory board forAmgen; serves on the editorial board for Journal of ClinicalInvestigation; and receives research support from NIH andMaryland Stem Cell Research Fund. C. Turner serves on thesteering committee of the UK Myotonic Dystrophy Nationalregistry; has received speaker honoraria fromGenzyme; serveson the editorial board for Neuromuscular Disorders; receivesresearch support from Genzyme, NIHR, and LCRN; and hasparticipated in medico-legal cases. S. Venance receives pub-lishing royalties for Neurology in Practice. Neuromuscular Dis-orders (Wiley-Blackwell, 2011). A. Verma’s spouse is on thespeakers’ bureau for UCB, Sunovion, Lundbeck, and EisaiPharmaceuticals. M. White and S. Winblad report no dis-closures. Full disclosure form information provided by theauthors is available with the full text of this article at Neurol-ogy.org/cp.

AppendixAppendix is available after References section.

Received March 12, 2018. Accepted in final form July 25, 2018.

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3. A short guide to consensus building. In: The Public Dispute Program—Massachusetts Institute of Technology [online]. Available at: web.mit.edu/pub-licdisputes/practice/shortguide.pdf. Accessed September 2015.

4. Nair R, Aggarwal R, KhannaD.Methods of formal consensus in classification/diagnosticcriteria and guideline development. Semin Arthritis Rheum 2010;41:95–105.

5. Harvard Program on Negotiation Staff. Conflict management: a creative approach tobreaking impasse. In: PON Harvard Law School [online]. Available at: pon.harvard.edu/daily/conflict-resolution/a-creative-approach-to-breaking-impasse. AccessedSeptember 2015.

6. Thornton C. Myotonic dystrophy. Neurol Clin 2014;32:705–719.7. Chouinard MC, Mathieu J, Lavoie M, et al. Integrated care pathway tool for the

myotonic dystrophy type 1. In: Myotonic Dystrophy Clinical Resources [online].Available at: myotonic.org/sites/default/files/ICP_English%20version_final.pdf.Accessed September 2015.

8. Turner C Hilton-Jones D. Myotonic dystrophy: diagnosis, management and newtherapies. Curr Opin Neurol 2014;27:599–606.

9. Day JW Ferschl M, Gropper M, Moxley R. Practical suggestions for the anestheticmanagement of a myotonic dystrophy patient. In: Myotonic Dystrophy ClinicalResources [online]. Available at: myotonic.org/sites/default/files/MDF_LongForm_AnesGuidelines_01C.pdf. Accessed September 2015.




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http://beyondintractability.org/essay/single-text-negotiation

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http://web.mit.edu/publicdisputes/practice/shortguide.pdf

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consensus-based care recommendations for adults …...shannon venance, md, phd, aparajitha verma,...

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