Consensus-Based Care Recommendations for Adults with Myotonic Dystrophy Type 1

REVIEW OPEN ACCESS Consensus-based care recommendations for adults with myotonic dystrophy type 1

Tetsuo Ashizawa, MD, Cynthia Gagnon, PhD, William J. Groh, MD, MPH, Laurie Gutmann, MD, Correspondence Nicholas E. Johnson, MD, Giovanni Meola, MD, Richard Moxley III, MD, Shree Pandya, DPT, Mark T. Rogers, MD, Dr. White [email protected] 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, Careniña Trujillo, 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 October 2018 vol. 8 no. 5 1-14 doi:10.1212/CPJ.0000000000000531

Abstract

Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit.

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

Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.

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

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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 downloading and 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. 1 – Comprehensive evidence-based the Nominal Group Technique.3 5 These facilitation approaches were selected because they could be eﬀective guidelines do not currently exist to within the context of the limited clinical care data available for DM1, the clinical content already available, and the guide the treatment of DM1 patients. complexities of working across a large, multinational group of experts.

The Working Group was divided into 8 Study Area sub- increased repeat expansion and disease severity, as evidenced committees, each led by a Steering Committee chair who fi by the average age of onset and overall morbidity of the identi ed members for his or her Study Area. The Study ff condition. An expansion of over 35 repeats typically indicates Areas were each assigned several body systems a ected by an unstable and expanding mutation. An expansion of 50 myotonic dystrophy. repeats or higher is consistent with a diagnosis of DM1. DM1 is a multisystem and heterogeneous disease characterized by Working Group subcommittee members began the distal weakness, atrophy, and myotonia, as well as symptoms consensus-building project by creating the background in the heart, brain, gastrointestinal tract, endocrine, and re- reading lists for their Study Areas. These reading lists were fi spiratory systems. Symptoms may occur at any age. The re ned as the project moved forward, and the Study Area lists fi severity of the condition varies widely among affected indi- serve as the bibliography for the nal Consensus-based viduals, even among members of the same family. Recommendations.

Comprehensive evidence-based guidelines do not currently The Single Text Procedure, using a single document as exist to guide the treatment of DM1 patients. As a result, the a starting point to incorporate the input and contributions of ff international patient community reports varied levels of care stakeholders, was used to begin the consensus-building e ort. fi and care quality, and difficulty accessing care adequate to In this process, stakeholders add, subtract, and re ne a draft fi fi manage their symptoms, unless they have access to multi- text that becomes the foundation for a nal rati ed disciplinary neuromuscular clinics. document.

Consensus-based care recommendations can help standard- Working with MDF, Margaret Wahl, RN, organized the draft ize and improve the quality of care received by DM1 patients document, drawing substantially from care content in the ’ fi and assist clinicians who may not be familiar with the sig- MDF Toolkit developed by the MDF sScienti candMed- fi ical Advisory Committee, as well as several other key ni cant variability, range of symptoms, and severity of the 6–9 disease. Care recommendations can also improve the land- references. MDF circulated the draft document to scape for clinical trial success by eliminating some of the Working Group members, along with other materials inconsistencies in patient care to allow more accurate un- designed to help coordinate the editing and revision process. derstanding of the benefit of potential therapies. Working Group members read the draft content for their Study Areas and provided Study Area-specific recommendations. MDF aggregated all the revisions and sugges- Methods tions into a single updated document. Recommendations in conflict were circulated to the group for discussion and re- The Myotonic Dystrophy Foundation (MDF) recruited solved through serial conference calls. clinicians from the United States, United Kingdom, Canada, and Europe who have experience in the treatment of indi- The Steering Committee reviewed the aggregated document, viduals living with DM1 to develop consensus-based care offered revisions, and then returned it to the full Working recommendations. Group. This process was repeated until the Steering Com- mittee and Working Group achieved consensus. The project included a Steering Committee of 10 and a total Working Group of 66 clinical professionals, with additional Sixty-six Steering Committee and Working Group members support from the US Centers for Disease Control and Pre- then met for a face-to-face summit that involved the second vention and the services of a facilitation firm, Interaction phase of the project, the Nominal Group Technique. Associates (San Francisco), that provided the meeting facilitation necessary to execute the Nominal Group Technique The Nominal Group Technique is a face-to-face, structured portion of the methodology. MDF provided project design, group meeting led by an experienced facilitator. Participants development, and management support. engage in a serial discussion of each revised, updated, or newly-generated recommendation led by the facilitator. To streamline the project timeline and lower project cost, MDF engaged 7 professional facilitators from Interaction MDF developed a 2-phased, consensus-building method- Associates to drive consensus building in Study Area sub- ology using components of the Single Text Procedure2 and committee meetings at the summit.

2 Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 Neurology.org/CP MDF then created an updated document aggregating the (±6 months), with pulmonary function tests, at least changes from the facilitated discussions, and the full Working forced vital capacity (FVC). Group went through the same facilitated process again with sRefer DM1 patients with respiratory symptoms including the new document, which concluded the Nominal Group ineffective cough (normal peak expiratory cough flow rate Technique portion of the process. is >270 L/min), respiratory insufficiency, recurrent pulmonary infections, prominent snoring, maximal in- MDF then created a postsummit, updated document based spiratory pressure is <60 cm H2O or FVC values of 50% on full-group feedback at the meeting. This version was used less than predicted normal values to a pulmonologist to conduct a final series of rounds of edit solicitation and knowledgeable in neuromuscular disorders. updated document review through email and conference call. s Vaccinate for pneumonia and flu; treat respiratory These efforts led to the final consensus-based care recom- infections quickly and use cough assistance and mendations and Quick Reference Guide for Adults with mechanical ventilation as needed along with obtaining DM1, which were completed in mid-2017. The Quick Ref- consultations from respiratory therapy and pulmo- erence Guide is provided as an appendix, and the full docu- nary medicine groups. ment is available online (appendix e-1, links.lww.com/CPJ/ s Some patients will eventually require either nighttime A53). Both feature flowcharts and other infographics for ease ventilator support or full-time ventilation. Most of use. patients with chronic respiratory insufficiency re- spond to noninvasive ventilatory support (NIV). Results Patients experiencing acute respiratory failure require endotracheal intubation with positive pressure See full recommendations at Neurology.org/cp. ventilation. s For chronic respiratory insufficiency, use supplemen- Life threatening symptoms—Clinical tal oxygen with caution and in conjunction with NIV care recommendations (see Surgery, anesthesia, and pain). Surgery, anesthesia, and pain sIf surgery is planned, reassess clearance capacity if needed, s See MDF’s Practical Suggestions for the Anesthetic possible adaptation to NIV or cough assistance. Management of a Myotonic Dystrophy Patient s See full recommendations at myotonic.org/clinical- (myotonic.org/clinical-resources) for anesthesia risks resources. and recommendations before any surgeries or Cardiovascular symptoms procedures requiring anesthesia. s Cardiac complications are the second leading cause of s DM1 patients have adverse reactions to medications death in DM1. used for anesthesia and analgesia, including opioids; s The most common cardiac issues are arrhythmias interactions of the cardiac, respiratory, muscle, and (sinus bradycardia, heart block, atrial fibrillation and CNS manifestations in each DM1 patient can lead to flutter, and ventricular tachycardia). a variety of untoward responses, including mortality, s Palpitations, chest pain, dyspnea, orthopnea, light- before, during, and after surgery. headedness, and syncope warrant cardiac investigation. s Serious adverse events to anesthesia and opioids can s Significant cardiac involvement that subsequently leads occur throughout the course of DM1 and have been to adverse cardiac events is often asymptomatic. reported in patients whose DM1 symptoms were mild. s Impulse—conduction abnormalities on a standard s Intellectual impairment, cognitive dysfunction, and/ 12-lead ECG including sinus rate <50 BPM, PR or hypersomnolence may adversely affect the interval >200 ms, QRS duration >100 ms, left patient’s ability to re-emerge from anesthesia. anterior or posterior fascicular block, abnormal Q- Include premorbid cognitive or intellectual dysfunc- waves, atrial tachycardia, fibrillation, or flutter, and tion as part of preoperative assessment preopera- ventricular arrhythmias are indicative of cardiac tively (if nonemergency intervention) because these involvement. manifestations along with preoperative sleep depri- s Refer patients with cardiac symptoms, abnormal vation can complicate the patient’s immediate annual or biennial ECG indicative of cardiac in- postoperative care and long-term recovery. volvement, and patients aged above 40 years without s Most serious complications occur in the postanes- previous cardiac evaluation to a center experienced in thesia period. DM1 care. s See full recommendations at myotonic.org/clinical- s Cardiology referral for all DM1 patients is reasonable resources. if part of a multidisciplinary program or if the Respiratory symptoms practitioners providing primary care are uncomfort- s Pulmonary complications are the leading cause of able assessing cardiac history, examination, or ECG. death in DM1 patients. Clinicians must monitor issues s See full recommendations at myotonic.org/clinical- such as recurrent pneumonia at baseline and serially resources.

Neurology.org/CP Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 3 Pregnancy and obstetric management s Mexiletine or other antimyotonia medications may be s Women with DM1: considered for myotonia treatment. Mexiletine is n Have increased risk of miscarriage, preterm delivery, contraindicated for DM1 patients with cardiac in- and respiratory insufficiency during pregnancy volvement. See full recommendations regarding (especially in the 3rd trimester) and failed labor mexiletine at myotonic.org/clinical-resources for more information on cardiac implications. during delivery; extreme care should be taken with analgesics and sedating anesthetic drugs (see MDF’s Ocular symptoms Practical Suggestions for the Anesthetic Management of s Relevant eye manifestations of DM1 include cataracts a Myotonic Dystrophy Patient [myotonic.org/clinical- (occurring in most patients), strabismus, and other resources]). ocular motility problems, myopia, and astigmatism in n Should consult with a high-risk obstetrics and congenital and juvenile-onset patients. gynecology (OBGYN) care provider before de- s Recommend annual eye examination, including slit- livery and obtain ongoing antenatal care. lamp eye examination. n Fatigue rapidly during labor and are at risk of s Advise patient on safety measures regarding adjusting postpartum hemorrhage, particularly after pro- to changes in light (from dim to bright) while driving, ff longed first or second stage or if there has been especially at night, related to the e ects of cataracts, polyhydramnios. and on protecting the cornea, especially as weakness n Should be induced only at direction of obstetrician of the face (due to m. orbicularis oculi weakness) and and after all necessary consultants assisting with the eye closure muscles progress. delivery are notified. s Surgically remove cataracts when they interfere s Sexually active patients with DM1: with activities of daily living; see Surgery, anesthe- n Should be referred to genetic counseling and family sia, and pain control section regarding anesthesia planning services if of child-bearing age. risk. n Should receive parental counselling for prenatal s Consider ophthalmic lubricants for dry eye, typically ff genetic diagnosis or discussion of preimplantation caused by m. orbicular oculi weakness a ecting eyelids genetic diagnosis. and cornea. s Include a pediatric or neonatal specialist present at s Consider eyelid crutches before surgery for ptosis (due delivery; intensive neonatal care is recommended for to m. levator palpebrae weakness); see Surgery, neonates that may have DM1; anticipate need for anesthesia, and pain control. feeding tube and ventilator support. s See full recommendations at myotonic.org/clinical- n resources. Access to a pediatric or neonatal specialist is recommended even if the fetus is known to be Gastrointestinal symptoms unaffected. s Ask about problems with chewing, swallowing, fl s See full recommendations at myotonic.org/clinical- drooling, re ux, bloating, abdominal pain, bowel resources. movement frequency and characteristics, diarrhea, and incontinence. Severe symptoms and conditions—Clinical s Physical examination should include abdominal care recommendations palpation, including around gall bladder, and rectal Skeletal muscle weakness and rehabilitation examination for anal sphincter spasm and dyssynergic s Evaluate annually for: defecation for symptomatic patients. n Swallowing and speech difficulties s DM1 patients are at risk for pseudo-obstruction and n Mobility, balance, and falls experience other problems that may cause actual n Activities of daily life—including self-care obstruction of small or large intestine, including n Activities in home, school, work, and community. endometriosis, acute gallbladder inflammation, rup- s Refer to specialists, including physical therapists tured ovarian cysts, sigmoid volvulus. Monitor (PTs), occupational therapists (OTs), speech potential obstructions to determine whether they pathologists, dieticians, social workers, and others. are pseudo or actual and treat accordingly. s Encourage moderate intensity (aerobic and resistance s Nonmedical interventions: training) exercise. n High-fiber diet for diarrhea or constipation; increase s See Role of Physical Therapy in the Assessment of water intake Individuals with Myotonic Dystrophy at myotonic.org/ n Nutritional supplement for weight loss, weight gain, clinical-resources. or dysphagia s See full recommendations at myotonic.org/clinical- n Dysphagia therapy referral for oral pharyngeal resources. dysphagia. Skeletal muscle myotonia s Medical interventions: s Myotonia can cause muscle stiffness, prolonged hand n Loperamide for diarrhea control grip, pain, and speech and swallowing difficulties. n Laxatives for constipation

4 Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 Neurology.org/CP First-line therapy: MiraLAX, Senna, Ducusate, measures during sleep study to assess possible or Linaclotide obstructive sleep apnea and CNS mediated sleep Second-line therapy: Bisacodyl, Lubiprostone, apnea. Linaclotide s Refer to a pulmonologist and/or sleep specialist if EDS n Avoid oils—if the above fails, refer out for anal scores are positive on scales. manometry s Question patients re: alcohol or caffeine consumption, n Metoclopramide for gastroparesis, pseudo- medications, and sleep habits for contribution to EDS. obstruction, reflux s Evaluate the effect of possible respiratory muscle n Antibiotics for bacterial overgrowth-induced di- weakness (FVC value sitting and supine) on the arrhea (based on breath testing) presence of EDS. n Enteral feeding only for recurring pneumonia or s If nocturnal or daytime hypoventilation is suspected, severe dysphagia causing weight loss or causing consider noninvasive positive pressure ventilation, inability to swallow safely without recurrent and refer to a pulmonologist with experience in aspiration neuromuscular diseases re: possible need for NIV n Mexiletine can be considered to treat diarrhea or launching. constipation. Mexiletine is contraindicated for s Consider modafinil for treatment if coexisting CNS DM1 patients with cardiac involvement. See full alteration is suspected as the cause of EDS. recommendations regarding mexiletine at myo- s Consider cognitive behavioral therapy or behavioral tonic.org/clinical-resources for more information therapy for apathy; also help treat fatigue; psychos- on cardiac implications. timulant treatment can be considered if apathy is s See full recommendations at myotonic.org/clinical- associated with an impairing level of fatigue or EDS. resources. s See full recommendations at myotonic.org/clinical- Neuropsychiatric symptoms resources. s Advise patients that DM1 is also a “brain disorder” Endocrine and metabolic symptoms that can involve cognitive deficits and changes in s Follow criteria from the American Diabetes Associa- cognition over time. tion re: the type of initial testing to obtain: typically, s Include psychiatric and behavioral examination at fasting blood glucose or HbA1c and if symptomatic baseline, and during regularly scheduled follow-up diabetes is suspected. appointments or when symptoms appear; consider s Consider formal glucose tolerance testing to monitor baseline MRI to assess DM1-related abnormalities glucose control in patients; request serial measurement (e.g., fluid-attenuated inversion recovery hyperinten- of HbA1c and fasting plasma glucose annually and sities, particularly in the temporal poles, and dilated coordinate care with a diabetes specialist as necessary. perivascular spaces, often colocalizing) and track over s Consider treating insulin resistance with lifestyle time. changes in diet and exercise. s Refer patients with psychiatric or behavioral disorders, s Measure liver and bilirubin levels at baseline and those with late-onset phenotype, and patients with annually; chronic liver enzyme elevation is typical and cognitive complaints to mental health care pro- does not necessarily indicate the need for obtaining fessional for testing and follow-up; patients may have a liver biopsy. limited insight into these issues—consider input from s Request thyroid stimulating hormone and circulating partners and family members as appropriate. thyroid hormone (thyroid-stimulating hormone s DM1 patients with a late-onset phenotype can exhibit [TSH] and Free T4) level tests at baseline and at fast decline in certain cognitive functions. least every 3 years; more frequently if indicated. s See full recommendations at myotonic.org/clinical- s Test for hyperlipidemia through serum blood lipid resources. levels at baseline and every 3 years; more frequently if Psychosocial symptoms indicated. Treat hyperlipidemia per current practice. s Assess patient’s social circumstances in household; s Sex-specific recommendations: consider and be aware of possible child neglect, acute n Inquire about painful or irregular menstruation, financial need, unsafe driving, unsafe or unsanitary ovarian cysts, endometriosis, and reproductive home; refer to social services, support programs, and history. organizations. n Inquire about erectile dysfunction; consider Excessive daytime sleepiness (EDS) symptoms further workup and medications to treat erectile s Assess for EDS with the Epworth Sleepiness Scale or dysfunction. Consider possible cardiovascular a similar standardized questionnaire instrument; risks-side effects associated with some erectile prescribe sleep study if sleep disturbance is suspected. dysfunction medications (over the counter and s Monitor periodic limb movements (muscle activity prescribed). during sleep), as well as EEG, and respiratory n Inquire about infertility and family planning.

Neurology.org/CP Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 5 The 2-step methodology used to drive (MTR), University Hospital of Wales, Cardiff,UK;De- partment of Neurology (ES), Houston Methodist Neuro- this consensus-building process logical Institute, TX; UMR 1129 (NA), INSERM & Paris DescartesUniversity,SorbonneParisCité; Institute of My- enabled a streamlined and relatively ology (NA), Pitié-SalpetrièreHospital,ˆ Paris, France; Unité low-cost medical guideline Clinique de Pathologie Neuromusculaire (GB), Institut de Myologie, Paris, France; Department of Pediatrics (KNB), development process. University of Utah, Salt Lake City; Krannert Institute of Cardiology (DB), Indiana University, Indianapolis; De- partment of Neuroscience (MB), Brighton and Sussex Medical School, University of Sussex, Brighton, UK; Neu- roimaging Laboratory (MB), IRCCS Santa Lucia Founda- s See full recommendations at myotonic.org/clinical- tion, Rome, Italy; Hospice and Palliative Care Program resources. (AB), Iowa City VA Medical Center; Maternal-Fetal Medi- Tumors cine (JLBB), Clinical Genetics, Obstetrics & Gynecology, s Look for pilomatrixomas (skin tumors); refer to University of Utah, Salt Lake City; Department of Paediat- surgeons for safe removal. rics and Clinical Neurological Sciences (CC), University of s Train patients to detect pilomatrixomas (small, a hard Western Ontario, London, Canada; Department of Re- lump under the skin on the head, neck, arms, torso, habilitation (EC), Radboud University Medical Center, and legs). Nijmegen, The Netherlands; Department of Neurology and s Follow general population cancer screening guidelines, Pediatrics (JWD), Stanford University, Palo Alto, CA; The particularly for breast, testicular, cervical, and colon NEMO Clinical Center (EDM), Fondazione Serena, Milan, cancer. Italy; Department of Cardiology (DD), Cochin Hospital, s Evaluate suspicious new CNS, abdominopelvic, and Paris-Decartes University, France; School of Medicine thyroid symptoms for possible cancer; consider (TD), Stanford University, Palo Alto, CA; Department of cancers of the brain, uterus, and ovary. Neurology (KE), University of Rochester, NY; Regional s See full recommendations at myotonic.org/clinical- Pediatric Rehabilitation Center (A-BE), Queen Silvia resources. Children’s Hospital, Gothenburg, Sweden; Department of Neurology (BvE), Radboud University Medical Center, Conclusions Nijmegen, The Netherlands; Department of Medicine (B. Esparis), Sleep Disorders Center, Mount Sinai Medical The recommendations in this study are intended to lead to Center, Miami Beach, FL; Centre de Référence de Patho- more informed and prepared clinical professionals and more logie Neuromusculaire Paris-Est (B. Eymard), Groupe readily available and high-quality care for affected families. Hospitalier Pitié-Salpetrière,ˆ Institut de Myologie, France; The Consensus-based Care Recommendations support an Department of Anesthesia and Perioperative Care (MF), international clinical trial environment that is better prepared University of California, San Francisco; Clinical Genetics to successfully assess the effectiveness of the potential therapies. Branch (SMG), Division of Cancer Epidemiology and Ge- The 2-step methodology used to drive this consensus-building netics, National Cancer Institute, National Institutes of process enabled a streamlined and relatively low-cost medical Health, Rockville, MD; ECOBES´ (BG), Recherche et guideline development process, resulting in care recom- transfert, Cégep de Jonquière, Jonquière, Québec, Canada; mendations available to clinicians in a timely manner. Department of Opthalmology (TG), Georgetown Univer- sity Hospital/Medstar Washington Hospital Center, Wash- Author affiliations ington, DC; Department of Neurology (CH), Center for Stanley H. Appel Department of Neurology (TA), Houston Health and Technology (CHET), University of Rochester; Methodist Neurological Institute, TX; Centre de Recherche Department of Neurology (JH), University of Rochester, Charles-Le-Moyne Saguenay-Lac-St-Jean sur les Innovations NY; Department of Pulmonology (VH), Houston Meth- en Santé (CG), Université de Sherbrooke, Jonquière, odist Neurological Institute, TX; Department of Neurobi- Québec, Canada; Department of Clinic Medicine (WJG), ology (MK), Care Sciences and Society, Karolinska Medical University of South Carolina; Ralph H. Johnson VA Institutet; Function Area Occupational Therapy & Physio- Medical Center (WJG), Medical University of South Caro- therapy (MK), Karolinska University Hospital; Stockholm, lina, Charleston; Department of Neurology (LG), University Sweden; Neuromuscular Clinic (WJK), London Health of Iowa; Department of Neurology (NEJ), Virginia Com- Sciences Center—University Campus, London, Ontario, monwealth University, Richmond; Department of Bio- Canada; Department of Neurology (KL), University of medical Sciences for Health (GM), University of Milan; Utah, Salt Lake City; Department of Rehabilitation (DM), Department of Neurology (GM), IRCCS Policlinico San Radboud University Medical Centre, Nijmegen, The Neth- Donato, Milan, Italy; Department of Neurology (RM, SP), erlands; Hereditary Muscle Disease Unit (AM), Neuro- University of Rochester; Institute of Medical Genetics genetics Branch, National Institute of Neurological

6 Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 Neurology.org/CP Disorders and Stroke, NIH, Bethesda, MD; Departments of Counseling & Management, drafting/revising the manuscript, Pediatrics and Neurology (KDM), University of Iowa; In- data acquisition, study supervision. N.E. Johnson: Working stitute of Molecular (DGM), Cell and Systems Biology, Group Chair: Gastrointestinal, Myotonia & Pain, drafting/ College of Medical, Veterinary and Life Sciences, University revising the manuscript, study concept or design, data acqui- of Glasgow, Scotland; Department of Psychiatry (DM), sition, study supervision. G. Meola: Working Group Chair: University of Iowa; Cardiac Electrophysiology (SN), The Neuropsychiatry & Central Nervous System, drafting/revising Hospital of the University of Pennsylvania, Philadelphia; the manuscript, data acquisition, study supervision. R. Moxley, Department of Gastroenterology and Hepatology (LN), III: Working Group Co-chair: Ocular, Malignancy & Endo- Stanford University, Palo Alto, CA; Department of Psychi- crine, drafting/revising the manuscript, study concept or de- atry (PN), University of Iowa; Department of Neurology sign, data acquisition, study supervision. S. Pandya: Working (RP), NHS Greater Glasgow and Clyde, Southern General Group Co-chair: Skeletal Muscle, Rehabilitation & Speech, Hospital, United Kingdom; Department of Neurology (J. drafting/revising the manuscript, data acquisition, study con- Phetteplace), University of Iowa; Département of Neuro- cept or design, study supervision. M.T. Rogers: Working logical Sciences (J. Puymirat), CHUQ-site Enfant-Jésus, Group Chair: Diagnosis, OBGYN & Family Management, Québec, Canada; Department of Cardiovascular Medicine drafting/revising the manuscript, data acquisition, study su- (SR), Ohio State University, Columbus; Département des pervision. E. Simpson: Working Group Chair: Respiratory, sciences de la santé (LR), UniversitéduQuébec àChic- Excessive Daytime Sleepiness & Anesthesia, drafting/revising outimi, Canada; The NEMO Clinical Center (ER), Fonda- the manuscript, data acquisition, study supervision. N. zione Serena, Milan, Italy; Department of Neurology (J. Angeard: Working Group member: Neuropsychiatry & Cen- Sampson), Stanford University, Palo Alto, CA; The NEMO tral Nervous System, drafting/revising the manuscript, data Clinical Center (VS), Neurorehabilitation Unit, Department acquisition. G. Bassez: Working Group member: Ocular, Ma- Biomedical Sciences for Health, University of Milan, Italy; lignancy & Endocrine; and Skeletal Muscle, Rehabilitation & Friedrich-Baur-Institute (BS), Department of Neurology, Speech, drafting/revising the manuscript, data acquisition. K. Ludwig-Maximilians-University, Munich, Germany; De- Berggren: Working Group member: Gastrointestinal, Myoto- partment of Speech Pathology (LS), Houston Methodist nia & Pain, drafting/revising the manuscript, data acquisition. Hospital, TX; Department of Neurology (J. Statland), Uni- D. Bhakta: Working Group member: Cardiac, drafting/revising versity of Kansas Medical Center; Department of Neurology the manuscript, data acquisition. M. Bozzali: Working group (SHS), McKnight Brain Institute, University of Florida, member: Neuropsychiatry & Central Nervous System, Gainesville; Division of Neurology (C. Tian), Cincinnati drafting/revising the manuscript, data acquisition. A. Broder- Children’s Hospital; Department of Neurology (CT), Uni- ick: Working Group member: Palliative Care & End of Life versity of Cincinnati, OH; Department of Neurology Counseling & Management, drafting/revising the manuscript, (C. Trujillo), University of Utah, Salt Lake City; Albert data acquisition. J.L.B. Byrne: Working Group member: Di- Einstein College of Medicine (GT), New York, NY; De- agnosis, OBGYN & Family Management, drafting/revising the partment of Medicine (GT), Division of Cardiology, John manuscript, data acquisition. C. Campbell: Working Group Hopkins University, Baltimore, MD; Department of Neu- member: Diagnosis, OBGYN & Family Management, romuscular Disease (C. Turner), National Hospital for drafting/revising the manuscript, acquisition of data. E. Cup: Neurology and Neurosurgery, London, United Kingdom Working Group member: Skeletal Muscle, Rehabilitation & and Department of Molecular Neuroscience (CT), Univer- Speech, drafting/revising the manuscript, data acquisition. J.W. sity College London, Institute of Neurology, United King- Day: Working Group member: Diagnosis, OBGYN & Family dom; Department of Clinical Neurological Sciences (SV), Management, drafting/revising the manuscript, data acquisi- London Health Sciences Centre, University Hospital, tion. E. De Mattia: Working Group member: Respiratory, Ontario, Canada; Stanley H. Appel Department of Neurol- Excessive Daytime Sleepiness & Anesthesia, drafting/revising ogy (AV), Houston Methodist Neurological Institute, TX; the manuscript, data acquisition. D. Duboc: Working Group Myotonic Dystrophy Foundation (MW), San Francisco, CA; member: Cardiac, drafting/revising the manuscript, data ac- Department of Psychology (SW), University of Gothenburg, quisition. T. Duong: Working Group member: Skeletal Mus- Sweden. cle, Rehabilitation & Speech, drafting/revising the manuscript, data acquisition. K. Eichinger: Working Group member: Skeletal Muscle, Rehabilitation & Speech, drafting/revising the Author contributions manuscript, data acquisition. A.-B. Ekstrom: Working Group T. Ashizawa: Working Group Co-chair: Ocular, Malignancy & member: Neuropsychiatry & Central Nervous System, drafting/ Endocrine, drafting/revising the manuscript, study concept or revising the manuscript, data acquisition. B.G.M. van Engelen: design, data acquisition, study supervision. C. Gagnon: Working Group member: Ocular, Malignancy & Endocrine and Working Group Co-chair: Skeletal Muscle, Rehabilitation & Neuropsychiatry & Central Nervous System, drafting/revising Speech, drafting/revising the manuscript, data acquisition, the manuscript, acquisition of data. B. Esparis: Working Group study supervision. W.J. Groh: Working Group Chair: Cardiac, member: Respiratory, Excessive Daytime Sleepiness & Anes- drafting/revising the manuscript, data acquisition, study su- thesia, drafting/revising the manuscript, acquisition of data. B. pervision. L. Gutmann: Working Group Chair: End of Life Eymard: Working Group member: Neuropsychiatry & Central

Neurology.org/CP Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 7 Nervous System, drafting/revising the manuscript, Acquisition acquisition. B. Schoser: Working Group member: Diagnosis, of data. M. Ferschl: Working Group member: Respiratory, OBGYN & Family Management, drafting/revising the manu- Excessive Daytime Sleepiness & Anesthesia, drafting/revising script, data acquisition. L. Sterling: Working Group member: the manuscript, data acquisition. S.M. Gadalla: Working Group Skeletal Muscle, Rehabilitation & Speech, drafting/revising the member: Ocular, Malignancy & Endocrine, drafting/revising manuscript, data acquisition. J. Statland: Working Group the manuscript, data acquisition. B. Gallais: Working Group member: Gastrointestinal, Myotonia & Pain, drafting/revising member: Neuropsychiatry & Central Nervous System, the manuscript, data acquisition. S.H. Subramony: Working drafting/revising the manuscript, data acquisition. T. Good- Group member: Gastrointestinal, Myotonia & Pain, drafting/ glick: Working Group member: Ocular, Malignancy & Endo- revising the manuscript, data acquisition. C. Tian: Working crine, drafting/revising the manuscript, data acquisition. C. Group member: Ocular, Malignancy & Endocrine, drafting/ Heatwole: Working Group member: Ocular, Malignancy & revising the manuscript, data acquisition. C. Trujillo: Working Endocrine, drafting/revising the manuscript, data acquisition. J. Group member: Palliative Care & End of Life Counseling & Hilbert: Working Group member: Ocular, Malignancy & En- Management, drafting/revising the manuscript, data acquisi- docrine, drafting/revising the manuscript. V. Holland: Working tion. G. Tomaselli: Working Group member: Cardiac, Group member: Respiratory, Excessive Daytime Sleepiness & drafting/revising the manuscript, data acquisition. C. Turner: Anesthesia, drafting/revising the manuscript, data acquisition. Working Group member: Neuropsychiatry & Central Nervous M. Kierkegaard: Working Group member: Skeletal Muscle, System, drafting/revising the manuscript, data acquisition. Rehabilitation & Speech, drafting/revising the manuscript, data S. Venance: Working Group member: Skeletal Muscle, Re- acquisition. W.J. Koopman: Working Group member: Skeletal habilitation & Speech, drafting/revising the manuscript, data Muscle, Rehabilitation & Speech, drafting/revising the manu- acquisition. A. Verma: Working Group member: Respiratory, script, data acquisition. K. Lane: Working Group member: Excessive Daytime Sleepiness & Anesthesia, drafting/revising Gastrointestinal, Myotonia & Pain, drafting/revising the man- the manuscript, data acquisition. M. White: drafting/revising uscript, data acquisition. D. Maas: Working Group member: the manuscript, study concept or design, Obtaining funding. Skeletal Muscle, Rehabilitation & Speech, drafting/revising the S. Winblad: Working Group member: Neuropsychiatry & manuscript, data acquisition. A. Mankodi: Working Group Central Nervous System, drafting/revising the manuscript, data member: Gastrointestinal, Myotonia & Pain, drafting/revising acquisition. the manuscript, data acquisition. K.D. Mathews: Working Group member: Diagnosis, OBGYN & Family Management, Acknowledgment drafting/revising the manuscript, data acquisition. D.G. Mon- The authors thank Dr. Julie Bolen and Natalie Street of the US ckton: Working Group member: Diagnosis, OBGYN & Family Centers for Disease Control and Prevention for invaluable Management, drafting/revising the manuscript, data acquisi- advice and Paul Formaker, Pam Lewis, and Margaret Wahl, tion. D. Moser: Working Group member: Neuropsychiatry & R.N., for exemplary support. Central Nervous System, drafting/revising the manuscript, data acquisition. S. Nazarian: Working Group member: Cardiac, Study funding drafting/revising the manuscript, data acquisition. L. Nguyen: Funded by the Myotonic Dystrophy Foundation. Working Group member: Gastrointestinal, Myotonia & Pain, drafting/revising the manuscript, data acquisition. P. Nopou- Disclosure los: Working Group member: Neuropsychiatry & Central T. Ashizawa serves on scientific advisory boards for the Nervous System, drafting/revising the manuscript, data ac- Myotonic Dystrophy Foundation, NIH, and National Ataxia quisition. R. Petty: Working Group member: Diagnosis, Foundation; has received funding for travel from Biohaven, OBGYN & Family Management, drafting/revising the manu- PacBio, and NIH; receives research support from Myotonic script, data acquisition. J. Phetteplace: Working Group mem- Dystrophy Foundation, National Ataxia Foundation, Biohaven ber: Diagnosis, OBGYN & Family Management, drafting/ Pharmaceuticals, Biogen, and NIH/NINDS; he is associated revising the manuscript, data acquisition. J. Puymirat: Working with Weill Cornell Medical College (Professor), Baylor Col- Group member: Ocular, Malignancy & Endocrine, drafting/ lege of Medicine (Adjunct Professor), Central South Univer- revising the manuscript, data acquisition. S. Raman: Working sity, China (Guest Faculty). C. Gagnon has received speaker Group member: Cardiac, drafting/revising the manuscript, honoraria from Biogen Idec; and receives research support data acquisition. L. Richer: Working Group member: Neuro- from Bioblast Pharma, Ataxia Charlevoix-Saguenay Founda- psychiatry & Central Nervous System, drafting/revising the tion, Fondation de ma vie, and Fonds de dotation santé manuscript, data acquisition. E. Roma: Working Group Jonquière.W.J. Groh serves on the editorial board of Heart member: Palliative Care & End of Life Counseling & Man- Rhythm Journal; serves as Chief of Medicine for VAMC and agement, drafting/revising the manuscript, data acquisition. J. Cardiology Physician for Medical University of South Caro- Sampson: Working Group member: Palliative Care & End of lina; and receives research support from Biogen. L. Gutmann Life Counseling; & Gastrointestinal, Myotonia & Pain, has received speaker honoraria from UC San Diego; receives drafting/revising the manuscript, data acquisition. V. Sansone: publishing royalties from Up-to-Date Online; and receives re- Working Group member: Respiratory, Excessive Daytime search support from Alexion, NIH, and Charcot Marie Tooth Sleepiness & Anesthesia, drafting/revising the manuscript, data Association. N. Johnson serves on scientific advisory boards

8 Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 Neurology.org/CP for Cytokinetics, AveXis, AMO Pharma, and Biogen Idec; has Duboc, and T.T. Duong report no disclosures. K. Eichinger received funding for travel and/or speaker honoraria from has received funding for travel from the FSH Society and the Strongbridge; serves as a consultant for AMO Pharma, AveXis, Myotonic Dystrophy Foundation; and serves as a consultant and Vertex Pharma; and receives research support from Ionis for Ionis Pharmaceuticals, Biogen, and Acceleron Pharma- Pharmaceuticals, Biogen Idec, Valerion Therapeutics, Cyto- ceuticals. A.-B. Ekstrom reports no disclosures. B.G.M. van kinetics, Acceleron, AveXis, AMO Pharma, NIH/NINDS, Engelen serves as a consultant and clinical advisor for Ful- FDA, Muscular Dystrophy Association, and Myotonic Dys- crum; Is author on a patent re: an IBM-specific autoantibody trophy Foundation. G. Meola reports no disclosures. R. licensed to Euroimmun; and receives institutional support Moxley, III serves on scientific advisory boards for NIH/ from the Radboud University Medical Centre and grant NINDS and Myotonic Dystrophy Foundation; and receives support from European Union’s Horizon 2020 research and research support from Ionis, NIH (NCRR, NCI), FDA, innovation programme (Murab), European Union 7th Saunders Family Foundation, and Abrams Family Fund. S. Framework Programme (OPTIMISTIC), the Netherlands Pandya receives research support from NIH and CDC. M.T. Organisation for Scientific Research (NWO), The Nether- Rogers reports no disclosures. E. Simpson receives publishing lands Organisation for Health Research and Development royalties for Case Files for Neurology, 3rd Edition (McGraw Hill, (ZonMw), Global FSH, Prinses Beatrix Spierfonds, Spieren 2017); serves on speakers’ bureaus for Alexion and Grifols; voor Spieren, Association Francaise contre les Myopathies, and holds an endowed chair supported by philanthropic and the Dutch FSHD Foundation. B. Esparis reports no dis- donations. N. Angeard reports no disclosures. G. Bassez serves closures. B. Eymard has received funding for travel and/or on scientific advisory boards for Lupin pharmaceuticals, AFM- speaker honoraria from LFB, Biogen, and BioMarin; serves as Telethon, and Myotonic Dystrophy Foundation; serves as a consultant for Sarepta Pharmaceutics; and receives research a consultant for Lupin pharmaceuticals; and receives research support from AFM-Telethon. M. Ferschl reports no dis- support from FP7 EU, AFM-Telethon, and Myotonic dys- closures. S.M. Gadalla serves as Editor of International Journal trophy registry. K. Berggren serves on a scientific advisory of Chronic Diseases; and is an employee of the NIH whose board for Biogen; and receives funding for travel and/or work is supported by the Intramural Program of the National speaker honoraria from HDSA and FSH Society. D. Bhakta Cancer Institute. B. Gallais has received funding for travel reports no disclosures. M. Bozzali serves as an Associate Editor from the Myotonic Dystrophy Foundation and receives re- for Journal of Alzheimer’s disease and Frontiers Cellular Neuro- search support from the Myotonic Dystrophy Foundation and science; and receives research support from the Italian Ministry Wyck Foundation. T. Goodglick reports no disclosures. C. of Health. A. Broderick reports no disclosures. J.L.B. Byrne Heatwole serves on scientific advisory boards for Biogen; has receives publishing royalties for Diagnostic Imaging: Obstetrics, received funding for travel from Myotonic Dystrophy Foun- 3rd Edition (Elsevier, 2016). C. Campbell serves on scientific dation; serves as a consultant for Imedecs, Maximus, Johns advisory boards for Catabasis and PTC Therapeutics; and Hopkins University, Biogen, Atyr, Ionis, Acceleron, Cytoki- receives research support from Valerion Pharmaceuticals, netics, ExpansionRX, AMO, and the Marigold Foundation; PTC Therapeutics, Pfizer, Ionis, Eli Lilly, Prosensa, Child receives research support from Pfizer, Technology De- Health Foundation, and Jesse’s Journey Foundation. E. Cup velopment Fund (University of Rochester), Cure Spinal receives research support from Prinses Beatrix Spierfonds and Muscular Atrophy, Amyotrophic Lateral Sclerosis Association, ZonMw DoelmatigheidsOnderzoek. J.W. Day serves on sci- Huntington Study Group/NJ Cure HD Foundation, NIH entific advisory boards for NIH, PPMD, and Marathon (NIAMS, NINDS), and United States Food and Drug Ad- Pharmaceuticals; has received gifts for research from family ministration; has royalties for use of the Myotonic Dystrophy benefactors; has served as a consultant for Biogen, Sarepta, Health Index (MDHI), a disease-specific patient-reported AveXis, and Cytokinetics; has received funding for travel and/ outcome measure for use in clinical trials and royalties from or speaker honoraria from Cytokinetics, Biogen, Roche, licensing instruments for FSHD, congenital DM1, CMT, AveXis, Isis Pharmaceuticals, Spinal Muscular Atrophy SMA, and Huntington disease; and has participated in Foundation, Parent’s Project Muscular Dystrophy, Myotonic medico-legal cases. J. Hilbert receives research support from Dystrophy Foundation, American Association of Pediatrics, Biogen, NIH, Abrams Family Fund, FSH Society, and Friends PPMD, Carrel-Krusen Organization, and AMO: is author on of FSH Research. V. Holland serves on a scientific advisory a patent re: (1) Myotonic Dystrophy type 2 genetic testing board for and received funding for travel from Hill Rom; and (2) Spinocerebellar Ataxia type 5 genetic testing; serves as contracts with the Houston Methodist Neurologic Institute as a consultant for Isis, Biogen, Cytokinetics, Sarepta Thera- a pulmonary specialist; serves on the speakers’ bureau for peutics, PTC Therapeutics, AveXis, Santhera, and Pfizer; Bureaus AANEM; and has served as an expert witness in receives research support from Genzyme, Isis, Sarepta, a legal case regarding environmental exposures. M. Kierke- Cytokinetics, AveXis, Biogen, Bristol-Myers, Roche, PTC gaard serves on a scientific advisory board for OPTIMISTIC; Therapeutics, Wave Therapeutics, NIH/NINDS, Muscular has received funding for travel from OPTIMISTIC and Dystrophy Association, Myotonic Dystrophy Foundation, Muscular Dystrophy Foundation; and receives research sup- Spinal Muscular Atrophy Foundation, and CureSMA; and port from Karolinska Institutet Foundation, Neuro Sweden, receives royalty payments for DM2 genetic testing and SCA5 Einar BelvénFoundation, and Réseau provincial de recherché genetic testing from Athena Diagnostics. E. De Mattia, D. en adaptation. W.J. Koopman, K. Lane, and D. Maas report no

Neurology.org/CP Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 9 disclosures. A. Mankodi receives support from NINDS Section Editor: for Current Opinion in Neurology. L. Sterling Intramural Research Funds. K.D. Mathews serves on scientific reports no disclosures. J. Statland serves on scientific advisory advisory boards for NIAMS, Santhera, Sarepta, BMS, and boards for Sarepta, PTC, and Acceleron; has received funding Muscular Dystrophy Foundation; has received funding for for travel and/or speaker honoraria from Strongbridge; serves travel from Santhera, Sarepta, and Bristol-Meyer-Squibb; as a consultant for Acceleron, Fulcrum, Regeneron, and Ex- serves as a consultant for Serepta Therapeutics, Bristol-Meyer- pansion; and receives research support from NIH/NINDS Squibb, and Santhera; and receives research support from and FSH Society. S.H. Subramony receives publishing royal- PTC Therapeutics, Sarepta Therapeutics, Pfizer, Fibrogen, ties for Handbook of Clinical Neurology (Elsevier, 2011); per- Roche, Intalfarmaco, Reata, Takeda, NIH Centers for Disease forms clinical electrophysiology (20% effort) at University of Control and Prevention, and Friedreich’s Ataxia Research Florida Department of Neurology; and receives research Alliance. D.G. Monckton serves on scientific advisory boards support from Inonis, Reata, Horizon, Biohaven, Pharnext, for AMO Pharma, the Myotonic Dystrophy Support Group, Acceleron, Medosome Biotec, NIH, US FDA, Friedreich the UK Myotonic Dystrophy Registry, and Myotonic Dys- Ataxia Research Alliance, Muscular Dystrophy Association, trophy Foundation; has received finding for travel and/or Myotonic Dystrophy Wyck Foundation, and National Ataxia speaker honoraria from Cure Huntington Disease Initiative, Foundation. C. Tian reports no disclosures. C. Trujillo serves European Huntington Disease Network, Muscular Dystrophy on scientific advisory boards for Sarepta Therapeutics and UK, University of Munich, European Neuromuscular Centre, Biogen. G. Tomaselli serves on a scientific advisory board for Myotonic Dystrophy Support Group, Scottish Church Amgen; serves on the editorial board for Journal of Clinical Theological Society, Oxford Global, University of Iowa, 9th Investigation; and receives research support from NIH and International Unstable Microsatellites and Human Disease Maryland Stem Cell Research Fund. C. Turner serves on the Conference, Cardiff University, Vertex Pharmaceuticals, steering committee of the UK Myotonic Dystrophy National Charles River, NHS Scotland, and Biotexcel; serves as a con- registry; has received speaker honoraria from Genzyme; serves sultant for AMO Pharma and Biogen Idec; receives research on the editorial board for Neuromuscular Disorders; receives support from AMO Pharma, NIH, Cure Huntington Disease research support from Genzyme, NIHR, and LCRN; and has Initiative, European Huntington Disease Network, Muscular participated in medico-legal cases. S. Venance receives pub- Dystrophy UK, Myotonic Dystrophy Support Group, Well- lishing royalties for Neurology in Practice. Neuromuscular Dis- come Trust, and Chief Scientist’sOffice (Scotland). D. Moser orders (Wiley-Blackwell, 2011). A. Verma’s spouse is on the receives research support from NIH/NINDS. S. Nazarian has speakers’ bureau for UCB, Sunovion, Lundbeck, and Eisai received speaker honoraria from Boston Scientific Inc.; serves Pharmaceuticals. M. White and S. Winblad report no dis- on editorial boards for Heart Rhythm Journal and Circulation, closures. Full disclosure form information provided by the Arrhythmia and Electrophysiology; serves as a consultant for authors is available with the full text of this article at Neurol- Boston Scientific, ImriCor, Siemens, CardioSolv, and St Jude ogy.org/cp. Medical; is a clinical cardiac electrophysiologist and occa- sionally asked to provide arrhythmia care, including electro- Appendix physiology studies, and pacemaker or ICD implantation for Appendix is available after References section. DM1 patients; and receives research support from Siemens, ImriCor, Biosense Webster, and NIH/NHLBI. L. Nguyen Received March 12, 2018. Accepted in final form July 25, 2018. serves on a scientific advisory board for Allergan; receives publishing royalties from Up to Date; and serves as a consul- References tant for Theravance and Genentech. P. Nopoulos receives 1. Harper PS. Myotonic Dystrophy, 3rd ed. London: Saunders; 2001. research support from NIH (NIDCR, NINDS, NHLBI). R. 2. Smith MS. Single text negotiation. In: Beyond Intractability [online]. Boulder, CO: Conflict Information Consortium, University of Colorado. Available at: beyondin- Petty has received funding for travel from Myotonic Dystro- tractability.org/essay/single-text-negotiation. Accessed July 2005. phy Support Group UK. J. Phetteplace serves as a consultant 3. A short guide to consensus building. In: The Public Dispute Program— Massachusetts Institute of Technology [online]. Available at: web.mit.edu/pub- for My Gene Counsel and her salary is partially funded licdisputes/practice/shortguide.pdf. Accessed September 2015. through the Muscular Dystrophy Association. J. Puymirat and 4. Nair R, Aggarwal R, Khanna D. Methods of formal consensus in classification/diagnostic criteria and guideline development. Semin Arthritis Rheum 2010;41:95–105. S. Raman report no disclosures. L. Richer has received funding 5. Harvard Program on Negotiation Staff.Conflict management: a creative approach to breaking impasse. In: PON Harvard Law School [online]. Available at: pon.harvard. for travel from the Myotonic Dystrophy Foundation. E. Roma edu/daily/conflict-resolution/a-creative-approach-to-breaking-impasse. Accessed reports no disclosures. J. Sampson has received funding for September 2015. 6. Thornton C. Myotonic dystrophy. Neurol Clin 2014;32:705–719. travel from the Myotonic Dystrophy Foundation and has 7. Chouinard MC, Mathieu J, Lavoie M, et al. Integrated care pathway tool for the provided expert testimony, not related to industry. V. Sansone myotonic dystrophy type 1. In: Myotonic Dystrophy Clinical Resources [online]. fi Available at: myotonic.org/sites/default/files/ICP_English%20version_final.pdf. reports no disclosures. B. Schoser serves on scienti c advisory Accessed September 2015. boards for and received funding for travel from Sanofi- 8. Turner C Hilton-Jones D. Myotonic dystrophy: diagnosis, management and new therapies. Curr Opin Neurol 2014;27:599–606. Genzyme, Biomarin, Amicus Therapeutics, and Audentes 9. Day JW Ferschl M, Gropper M, Moxley R. Practical suggestions for the anesthetic Therapeutics; serves on the editorial boards for Neuromuscular management of a myotonic dystrophy patient. In: Myotonic Dystrophy Clinical Resources [online]. Available at: myotonic.org/sites/default/files/MDF_LongForm_ Disorders and Journal of Neuromuscular Disorders and as AnesGuidelines_01C.pdf. Accessed September 2015.

10 Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 Neurology.org/CP Neurology.org/CP Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 11 12 Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 Neurology.org/CP Neurology.org/CP Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 13 14 Neurology: Clinical Practice | Volume 8, Number 5 | October 2018 Neurology.org/CP Consensus-based care recommendations for adults with myotonic dystrophy type 1 Tetsuo Ashizawa, Cynthia Gagnon, William J. Groh, et al. Neurol Clin Pract published online September 13, 2018 DOI 10.1212/CPJ.0000000000000531

This information is current as of September 13, 2018

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Neurol Clin Pract is an official journal of the American Academy of Neurology. Published continuously since 2011, it is now a bimonthly with 6 issues per year. Copyright Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.. All rights reserved. Print ISSN: 2163-0402. Online ISSN: 2163-0933.