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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 LB 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

SH SubramonyMD Cuixia TianMD CarenintildeaTrujillo RNMSNGordon TomaselliMD Chris TurnerMD 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 doi101212CPJ0000000000000531

Correspondence

Dr White

mollywhitemyotonicorg

AbstractPurpose of reviewMyotonic dystrophy type 1 (DM1) is a severe progressive geneticdisease that affects between 1 in 3000 and 8000 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 andor 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 ldquoone of the more variable diseases found in medicinerdquomyotonic dystrophy type1 (DM1) is an autosomal dominant triplet-repeat expansion disorder that affects somewherebetween 13000 and 18000 individuals worldwide1 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 atNeurologyorgcp

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 40 (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 copy 2018 The Author(s) Published by Wolters Kluwer Health Inc on behalf of the American Academy of Neurology 507

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 Canadaand 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 designdevelopment and management support

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

the Nominal Group Technique3ndash5 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 effortIn 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 MDFrsquos Scientific and Med-ical Advisory Committee as well as several other keyreferences6ndash9 MDF circulated the draft document toWorking Group members along with other materialsdesigned to help coordinate the editing and revision processWorking 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 documentoffered 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 facilitatorMDF 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

508 Neurology Clinical Practice | Volume 8 Number 6 | December 2018 NeurologyorgCP

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 callThese 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 linkslwwcomCPJA53) Both feature flowcharts and other infographics for easeof use

ResultsSee full recommendations at Neurologyorgcp

Life threatening symptomsmdashClinicalcare recommendations Surgery anesthesia and pain

s See MDFrsquos Practical Suggestions for the AnestheticManagement of a Myotonic Dystrophy Patient(myotonicorgclinical-resources) for anesthesia risksand recommendations before any surgeries orprocedures requiring anesthesia

s DM1 patients have adverse reactions to medicationsused for anesthesia and analgesia including opioidsinteractions of the cardiac respiratory muscle andCNS manifestations in each DM1 patient can lead toa variety of untoward responses including mortalitybefore 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 andor hypersomnolence may adversely affect thepatientrsquos ability to re-emerge from anesthesiaInclude 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 patientrsquos immediatepostoperative care and long-term recovery

s Most serious complications occur in the postanes-thesia period

s See full recommendations at myotonicorgclinical-resources

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

(plusmn6 months) with pulmonary function tests at leastforced vital capacity (FVC)

sRefer DM1 patients with respiratory symptoms includingineffective cough (normal peak expiratory cough flow rateis gt270 Lmin) respiratory insufficiency recurrentpulmonary infections prominent snoring maximal in-spiratory pressure is lt60 cm H2O or FVC values of 50less 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 neededpossible 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 Impulsemdashconduction abnormalities on a standard12-lead ECG including sinus rate lt50 BPM PRinterval gt200 ms QRS duration gt100 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


NeurologyorgCP Neurology Clinical Practice | Volume 8 Number 6 | December 2018 509

Pregnancy and obstetric managements Women with DM1

nHave increased risk of miscarriage preterm deliveryand respiratory insufficiency during pregnancy(especially in the 3rd trimester) and failed laborduring delivery extreme care should be taken withanalgesics and sedating anesthetic drugs (see MDFrsquosPractical Suggestions for the Anesthetic Management ofa Myotonic Dystrophy Patient [myotonicorgclinical-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 DM1n 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 supportn Access to a pediatric or neonatal specialist isrecommended even if the fetus is known to beunaffected


Severe symptoms and conditionsmdashClinicalcare recommendations Skeletal muscle weakness and rehabilitation

s Evaluate annually forn Swallowing and speech difficultiesn Mobility balance and fallsn Activities of daily lifemdashincluding 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 myotonicorgclinical-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 myotonicorgclinical-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 drivingespecially at night related to the effects of cataractsand 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 Surgeryanesthesia and pain control


Gastrointestinal symptomss Ask about problems with chewing swallowingdrooling reflux bloating abdominal pain bowelmovement frequency and characteristics diarrheaand 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 interventionsn High-fiber diet for diarrhea or constipation increasewater intake

n Nutritional supplement for weight loss weight gainor dysphagia

n Dysphagia therapy referral for oral pharyngealdysphagia

s Medical interventionsn Loperamide for diarrhea controln Laxatives for constipation


First-line therapy MiraLAX Senna Ducusateor Linaclotide

Second-line therapy Bisacodyl LubiprostoneLinaclotide

n Avoid oilsmdashif 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-tonicorgclinical-resources for more informationon cardiac implications


Neuropsychiatric symptomss Advise patients that DM1 is also a ldquobrain disorderrdquothat 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(eg 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 disordersthose 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 issuesmdashconsider 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 patientrsquos social circumstances in householdconsider 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 instrumentprescribe 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 andor sleep specialist if EDSscores are positive on scales

s Question patients re alcohol or caffeine consumptionmedications 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 suspectedconsider noninvasive positive pressure ventilationand 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 typicallyfasting 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 recommendationsn Inquire about painful or irregular menstruationovarian 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 torsoand legs)

s Follow general population cancer screening guidelinesparticularly 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 familiesThe Consensus-based Care Recommendations support aninternational clinical trial environment that is better preparedto successfully assess the effectiveness of the potential therapiesThe 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 JonquiereQuebec 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 MilanDepartment 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 amp 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 amp GynecologyUniversity 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 CenterNijmegen The Netherlands Department of Neurology andPediatrics (JWD) Stanford University Palo Alto CA TheNEMO Clinical Center (EDM) Fondazione Serena MilanItaly Department of Cardiology (DD) Cochin HospitalParis-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 SilviaChildrenrsquos Hospital Gothenburg Sweden Department ofNeurology (BvE) Radboud University Medical CenterNijmegen 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 FranceDepartment 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 CanadaDepartment of Opthalmology (TG) Georgetown Univer-sity HospitalMedstar Washington Hospital Center Wash-ington DC Department of Neurology (CH) Center forHealth and Technology (CHET) University of RochesterDepartment of Neurology (JH) University of RochesterNY Department of Pulmonology (VH) Houston Meth-odist Neurological Institute TX Department of Neurobi-ology (MK) Care Sciences and Society KarolinskaInstitutet Function Area Occupational Therapy amp Physio-therapy (MK) Karolinska University Hospital StockholmSweden Neuromuscular Clinic (WJK) London HealthSciences CentermdashUniversity Campus London OntarioCanada 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 BiologyCollege 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 PhiladelphiaDepartment 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 (JPhetteplace) University of Iowa Departement of Neuro-logical Sciences (J Puymirat) CHUQ-site Enfant-JesusQuebec 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 (JSampson) Stanford University Palo Alto CA The NEMOClinical Center (VS) Neurorehabilitation Unit DepartmentBiomedical Sciences for Health University of Milan ItalyFriedrich-Baur-Institute (BS) Department of NeurologyLudwig-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 FloridaGainesville Division of Neurology (C Tian) CincinnatiChildrenrsquos 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 HospitalOntario Canada Stanley H Appel Department of Neurol-ogy (AV) Houston Methodist Neurological Institute TXMyotonic Dystrophy Foundation (MW) San Francisco CADepartment of Psychology (SW) University of GothenburgSweden

Author contributionsT Ashizawa Working Group Co-chair Ocular Malignancy ampEndocrine draftingrevising the manuscript study concept ordesign data acquisition study supervision C GagnonWorking Group Co-chair Skeletal Muscle Rehabilitation ampSpeech draftingrevising the manuscript data acquisitionstudy supervision WJ Groh Working Group Chair Cardiacdraftingrevising the manuscript data acquisition study su-pervision L Gutmann Working Group Chair End of Life

Counseling amp Management draftingrevising the manuscriptdata acquisition study supervision NE Johnson WorkingGroup Chair Gastrointestinal Myotonia amp Pain draftingrevising the manuscript study concept or design data acqui-sition study supervision G Meola Working Group ChairNeuropsychiatry amp Central Nervous System draftingrevisingthe manuscript data acquisition study supervision R MoxleyIII Working Group Co-chair Ocular Malignancy amp Endo-crine draftingrevising the manuscript study concept or de-sign data acquisition study supervision S Pandya WorkingGroup Co-chair Skeletal Muscle Rehabilitation amp Speechdraftingrevising the manuscript data acquisition study con-cept or design study supervision MT Rogers WorkingGroup Chair Diagnosis OBGYN amp Family Managementdraftingrevising the manuscript data acquisition study su-pervision E Simpson Working Group Chair RespiratoryExcessive Daytime Sleepiness amp Anesthesia draftingrevisingthe manuscript data acquisition study supervision NAngeard Working Group member Neuropsychiatry amp Cen-tral Nervous System draftingrevising the manuscript dataacquisition G Bassez Working Group member Ocular Ma-lignancy amp Endocrine and Skeletal Muscle Rehabilitation ampSpeech draftingrevising the manuscript data acquisition KBerggren Working Group member Gastrointestinal Myoto-nia amp Pain draftingrevising the manuscript data acquisitionD BhaktaWorkingGroupmember Cardiac draftingrevisingthe manuscript data acquisition M Bozzali Working groupmember Neuropsychiatry amp Central Nervous Systemdraftingrevising the manuscript data acquisition A Broder-ick Working Group member Palliative Care amp End of LifeCounseling amp Management draftingrevising the manuscriptdata acquisition JLB Byrne Working Group member Di-agnosis OBGYNamp Family Management draftingrevising themanuscript data acquisition C Campbell Working Groupmember Diagnosis OBGYN amp Family Managementdraftingrevising the manuscript acquisition of data E CupWorking Group member Skeletal Muscle Rehabilitation ampSpeech draftingrevising the manuscript data acquisition JWDay Working Group member Diagnosis OBGYN amp FamilyManagement draftingrevising the manuscript data acquisi-tion E De Mattia Working Group member RespiratoryExcessive Daytime Sleepiness amp Anesthesia draftingrevisingthe manuscript data acquisition D Duboc Working Groupmember Cardiac draftingrevising the manuscript data ac-quisition T Duong Working Group member Skeletal Mus-cle Rehabilitation amp Speech draftingrevising the manuscriptdata acquisition K Eichinger Working Group memberSkeletal Muscle Rehabilitation amp Speech draftingrevising themanuscript data acquisition A-B Ekstrom Working Groupmember Neuropsychiatry amp Central Nervous System draftingrevising the manuscript data acquisition BGM van EngelenWorking Group member Ocular Malignancy amp Endocrine andNeuropsychiatry amp Central Nervous System draftingrevisingthe manuscript acquisition of data B Esparis Working Groupmember Respiratory Excessive Daytime Sleepiness amp Anes-thesia draftingrevising the manuscript acquisition of data BEymard Working Group member Neuropsychiatry amp Central


Nervous System draftingrevising the manuscript Acquisitionof data M Ferschl Working Group member RespiratoryExcessive Daytime Sleepiness amp Anesthesia draftingrevisingthe manuscript data acquisition SM Gadalla Working Groupmember Ocular Malignancy amp Endocrine draftingrevisingthe manuscript data acquisition B Gallais Working Groupmember Neuropsychiatry amp Central Nervous Systemdraftingrevising the manuscript data acquisition T Good-glick Working Group member Ocular Malignancy amp Endo-crine draftingrevising the manuscript data acquisition CHeatwole Working Group member Ocular Malignancy ampEndocrine draftingrevising the manuscript data acquisition JHilbert Working Group member Ocular Malignancy amp En-docrine draftingrevising the manuscript V Holland WorkingGroup member Respiratory Excessive Daytime Sleepiness ampAnesthesia draftingrevising the manuscript data acquisitionM Kierkegaard Working Group member Skeletal MuscleRehabilitation amp Speech draftingrevising the manuscript dataacquisition WJ Koopman Working Group member SkeletalMuscle Rehabilitation amp Speech draftingrevising the manu-script data acquisition K Lane Working Group memberGastrointestinal Myotonia amp Pain draftingrevising the man-uscript data acquisition D Maas Working Group memberSkeletal Muscle Rehabilitation amp Speech draftingrevising themanuscript data acquisition A Mankodi Working Groupmember Gastrointestinal Myotonia amp Pain draftingrevisingthe manuscript data acquisition KD Mathews WorkingGroup member Diagnosis OBGYN amp Family Managementdraftingrevising the manuscript data acquisition DG Mon-ckton Working Group member Diagnosis OBGYNamp FamilyManagement draftingrevising the manuscript data acquisi-tion D Moser Working Group member Neuropsychiatry ampCentral Nervous System draftingrevising the manuscript dataacquisition S Nazarian Working Group member Cardiacdraftingrevising the manuscript data acquisition L NguyenWorking Group member Gastrointestinal Myotonia amp Paindraftingrevising the manuscript data acquisition P Nopou-los Working Group member Neuropsychiatry amp CentralNervous System draftingrevising the manuscript data ac-quisition R Petty Working Group member DiagnosisOBGYN amp Family Management draftingrevising the manu-script data acquisition J Phetteplace Working Group mem-ber Diagnosis OBGYN amp Family Management draftingrevising the manuscript data acquisition J Puymirat WorkingGroup member Ocular Malignancy amp Endocrine draftingrevising the manuscript data acquisition S Raman WorkingGroup member Cardiac draftingrevising the manuscriptdata acquisition L Richer Working Group member Neuro-psychiatry amp Central Nervous System draftingrevising themanuscript data acquisition E Roma Working Groupmember Palliative Care amp End of Life Counseling amp Man-agement draftingrevising the manuscript data acquisition JSampson Working Group member Palliative Care amp End ofLife Counseling amp Gastrointestinal Myotonia amp Paindraftingrevising the manuscript data acquisition V SansoneWorking Group member Respiratory Excessive DaytimeSleepiness amp Anesthesia draftingrevising the manuscript data

acquisition B Schoser Working Group member DiagnosisOBGYN amp Family Management draftingrevising the manu-script data acquisition L Sterling Working Group memberSkeletal Muscle Rehabilitation amp Speech draftingrevising themanuscript data acquisition J Statland Working Groupmember Gastrointestinal Myotonia amp Pain draftingrevisingthe manuscript data acquisition SH Subramony WorkingGroup member Gastrointestinal Myotonia amp Pain draftingrevising the manuscript data acquisition C Tian WorkingGroup member Ocular Malignancy amp Endocrine draftingrevising the manuscript data acquisition C Trujillo WorkingGroup member Palliative Care amp End of Life Counseling ampManagement draftingrevising the manuscript data acquisi-tion G Tomaselli Working Group member Cardiacdraftingrevising the manuscript data acquisition C TurnerWorking Groupmember Neuropsychiatry amp Central NervousSystem draftingrevising the manuscript data acquisitionS Venance Working Group member Skeletal Muscle Re-habilitation amp Speech draftingrevising the manuscript dataacquisition A Verma Working Group member RespiratoryExcessive Daytime Sleepiness amp Anesthesia draftingrevisingthe manuscript data acquisition M White draftingrevisingthe manuscript study concept or design Obtaining fundingS Winblad Working Group member Neuropsychiatry ampCentral Nervous System draftingrevising 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 WahlRN 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 BiohavenPacBio and NIH receives research support from MyotonicDystrophy FoundationNational Ataxia Foundation BiohavenPharmaceuticals Biogen and NIHNINDS 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 WJ 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 andor speaker honoraria fromStrongbridge serves as a consultant for AMOPharma AveXisand Vertex Pharma and receives research support from IonisPharmaceuticals Biogen Idec Valerion Therapeutics Cyto-kinetics Acceleron AveXis AMO Pharma NIHNINDSFDA Muscular Dystrophy Association and Myotonic Dys-trophy Foundation G Meola reports no disclosures RMoxley III serves on scientific advisory boards for NIHNINDS and Myotonic Dystrophy Foundation and receivesresearch support from Ionis NIH (NCRR NCI) FDASaunders Family Foundation and Abrams Family Fund SPandya receives research support from NIH and CDC MTRogers reports no disclosures E Simpson receives publishingroyalties forCase Files for Neurology 3rd Edition (McGrawHill2017) serves on speakersrsquo bureaus for Alexion and Grifolsand 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 andorspeaker honoraria from HDSA and FSH Society D Bhaktareports no disclosures M Bozzali serves as an Associate Editorfor Journal of Alzheimerrsquos disease and Frontiers Cellular Neuro-science and receives research support from the Italian Ministryof Health A Broderick reports no disclosures JLB Byrnereceives publishing royalties for Diagnostic Imaging Obstetrics3rd Edition (Elsevier 2016) C Campbell serves on scientificadvisory boards for Catabasis and PTC Therapeutics andreceives research support from Valerion PharmaceuticalsPTC Therapeutics Pfizer Ionis Eli Lilly Prosensa ChildHealth Foundation and Jessersquos Journey Foundation E Cupreceives research support from Prinses Beatrix Spierfonds andZonMw DoelmatigheidsOnderzoek JW 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 SareptaAveXis and Cytokinetics has received funding for travel andor speaker honoraria from Cytokinetics Biogen RocheAveXis Isis Pharmaceuticals Spinal Muscular AtrophyFoundation Parentrsquos Project Muscular Dystrophy MyotonicDystrophy Foundation American Association of PediatricsPPMD 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 Pfizerreceives research support from Genzyme Isis SareptaCytokinetics AveXis Biogen Bristol-Myers Roche PTCTherapeutics Wave Therapeutics NIHNINDS MuscularDystrophy Association Myotonic Dystrophy FoundationSpinal Muscular Atrophy Foundation and CureSMA andreceives royalty payments for DM2 genetic testing and SCA5genetic testing from Athena Diagnostics E De Mattia D

Duboc and TT 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 BGM 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 Unionrsquos 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 Myopathiesand the Dutch FSHD Foundation B Esparis reports no dis-closures B Eymard has received funding for travel andorspeaker honoraria from LFB Biogen and BioMarin serves asa consultant for Sarepta Pharmaceutics and receives researchsupport from AFM-Telethon M Ferschl reports no dis-closures SM 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 CHeatwole 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 Foundationreceives research support from Pfizer Technology De-velopment Fund (University of Rochester) Cure SpinalMuscular Atrophy Amyotrophic Lateral Sclerosis AssociationHuntington Study GroupNJ 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 CMTSMA 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 Romcontracts with the HoustonMethodist Neurologic Institute asa pulmonary specialist serves on the speakersrsquo 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 OPTIMISTIChas received funding for travel from OPTIMISTIC andMuscular Dystrophy Foundation and receives research sup-port from Karolinska Institutet Foundation Neuro SwedenEinar Belven Foundation and Reseau provincial de rechercheen adaptation WJ Koopman K Lane and DMaas report no


disclosures A Mankodi receives support from NINDSIntramural Research Funds KD Mathews serves on scientificadvisory boards for NIAMS Santhera Sarepta BMS andMuscular Dystrophy Foundation has received funding fortravel from Santhera Sarepta and Bristol-Meyer-Squibbserves as a consultant for Serepta Therapeutics Bristol-Meyer-Squibb and Santhera and receives research support fromPTC Therapeutics Sarepta Therapeutics Pfizer FibrogenRoche Intalfarmaco Reata Takeda NIH Centers for DiseaseControl and Prevention and Friedreichrsquos Ataxia ResearchAlliance DG Monckton serves on scientific advisory boardsfor AMO Pharma the Myotonic Dystrophy Support Groupthe UK Myotonic Dystrophy Registry and Myotonic Dys-trophy Foundation has received finding for travel andorspeaker honoraria from Cure Huntington Disease InitiativeEuropean Huntington Disease Network Muscular DystrophyUK University of Munich European Neuromuscular CentreMyotonic Dystrophy Support Group Scottish ChurchTheological Society Oxford Global University of Iowa 9thInternational Unstable Microsatellites and Human DiseaseConference Cardiff University Vertex PharmaceuticalsCharles 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 Scientistrsquos Office (Scotland) D Moserreceives research support from NIHNINDS S Nazarian hasreceived speaker honoraria from Boston Scientific Inc serveson editorial boards for Heart Rhythm Journal and CirculationArrhythmia 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 SiemensImriCor Biosense Webster and NIHNHLBI 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) RPetty 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 andor speaker honoraria from Strongbridge servesas a consultant for Acceleron Fulcrum Regeneron and Ex-pansion and receives research support from NIHNINDSand FSH Society SH 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 PharnextAcceleron Medosome Biotec NIH US FDA FriedreichAtaxia Research Alliance Muscular Dystrophy AssociationMyotonic 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 Vermarsquos spouse is on thespeakersrsquo 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-ogyorgcp

AppendixAppendix is available after References section

Received March 12 2018 Accepted in final form July 25 2018

References1 Harper PS Myotonic Dystrophy 3rd ed London Saunders 20012 Smith MS Single text negotiation In Beyond Intractability [online] Boulder CO

Conflict Information Consortium University of Colorado Available at beyondin-tractabilityorgessaysingle-text-negotiation Accessed July 2005

3 A short guide to consensus building In The Public Dispute ProgrammdashMassachusetts Institute of Technology [online] Available at webmitedupub-licdisputespracticeshortguidepdf Accessed September 2015

4 Nair R Aggarwal R KhannaDMethods of formal consensus in classificationdiagnosticcriteria and guideline development Semin Arthritis Rheum 20104195ndash105

5 Harvard Program on Negotiation Staff Conflict management a creative approach tobreaking impasse In PON Harvard Law School [online] Available at ponharvardedudailyconflict-resolutiona-creative-approach-to-breaking-impasse AccessedSeptember 2015

6 Thornton C Myotonic dystrophy Neurol Clin 201432705ndash7197 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 myotonicorgsitesdefaultfilesICP_English20version_finalpdfAccessed September 2015

8 Turner C Hilton-Jones D Myotonic dystrophy diagnosis management and newtherapies Curr Opin Neurol 201427599ndash606

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 myotonicorgsitesdefaultfilesMDF_LongForm_AnesGuidelines_01Cpdf Accessed September 2015






DOI 101212CPJ000000000000053120188507-520 Published Online before print September 13 2018Neurol Clin Pract

Tetsuo Ashizawa Cynthia Gagnon William J Groh et al Consensus-based care recommendations for adults with myotonic dystrophy type 1

This information is current as of September 13 2018

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reserved Print ISSN 2163-0402 Online ISSN 2163-0933Published by Wolters Kluwer Health Inc on behalf of the American Academy of Neurology All rightssince 2011 it is now a bimonthly with 6 issues per year Copyright Copyright copy 2018 The Author(s)

is an official journal of the American Academy of Neurology Published continuouslyNeurol Clin Pract

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 Canadaand 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 designdevelopment and management support

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

the Nominal Group Technique3ndash5 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 effortIn 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 MDFrsquos Scientific and Med-ical Advisory Committee as well as several other keyreferences6ndash9 MDF circulated the draft document toWorking Group members along with other materialsdesigned to help coordinate the editing and revision processWorking 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 documentoffered 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 facilitatorMDF 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

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