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

被引：121

作者：

Ashizawa, Tetsuo ^{[1
]}

Gagnon, Cynthia ^{[2
]}

Groh, William J. ^{[3
,4
]}

Gutmann, Laurie ^{[5
]}

Johnson, Nicholas E. ^{[6
]}

Meola, Giovanni ^{[7
,8
]}

Moxley, Richard, III ^{[9
]}

Pandya, Shree ^{[9
]}

Rogers, Mark T. ^{[10
]}

Simpson, Ericka ^{[11
]}

Angeard, Nathalie ^{[12
,13
]}

Bassez, Guillaume ^{[14
]}

Berggren, Kiera N. ^{[15
]}

Bhakta, Deepak ^{[16
]}

Bozzali, Marco ^{[17
,18
]}

Broderick, Ann ^{[19
]}

Byrne, Janice L. B. ^{[20
]}

Campbell, Craig ^{[21
]}

Cup, Edith ^{[22
]}

Day, John W. ^{[23
]}

De Mattia, Elisa ^{[24
]}

Duboc, Denis ^{[25
]}

Duong, Tina ^{[26
]}

Eichinger, Katy ^{[27
]}

Ekstrom, Anne-Berit ^{[28
]}

van Engelen, Baziel ^{[29
]}

Esparis, Belen ^{[30
]}

Eymard, Bruno ^{[31
]}

Ferschl, Marla ^{[32
]}

Gadalla, Shahinaz M. ^{[33
]}

Gallais, Benjamin ^{[34
]}

Goodglick, Todd ^{[35
]}

Heatwole, Chad ^{[36
]}

Hilbert, James ^{[37
]}

Holland, Venessa ^{[38
]}

Kierkegaard, Marie ^{[39
,40
]}

Koopman, Wilma J. ^{[41
]}

Lane, Kari ^{[42
]}

Maas, Daphne ^{[43
]}

Mankodi, Ami ^{[44
]}

Mathews, Katherine D. ^{[5
,15
,42
]}

Monckton, Darren G. ^{[45
]}

Moser, David ^{[46
]}

Nazarian, Saman ^{[47
]}

Nguyen, Linda ^{[48
]}

Nopoulos, Peg ^{[49
]}

Petty, Richard ^{[50
]}

Phetteplace, Janel ^{[51
]}

Puymirat, Jack ^{[52
]}

Raman, Subha ^{[53
]}

机构：

[1] Houston Methodist Neurol Inst, Stanley H Appel Dept Neurol, Houston, TX USA

[2] Univ Sherbrooke, Ctr Rech Charles Le Moyne Saguenay Lac St Jean In, Jonquiere, PQ, Canada

[3] Med Univ South Carolina, Dept Clin Med, Charleston, SC 29425 USA

[4] Med Univ South Carolina, Ralph H Johnson VA Med Ctr, Charleston, SC 29425 USA

[5] Univ Iowa, Dept Neurol, Iowa City, IA 52242 USA

[6] Virginia Commonwealth Univ, Dept Neurol, Richmond, VA USA

[7] Univ Milan, Dept Biomed Sci Hlth, Milan, Italy

[8] IRCCS Policlin San Donato, Dept Neurol, Milan, Italy

[9] Univ Rochester, Dept Neurol, Rochester, NY 14627 USA

[10] Univ Hosp Wales, Inst Med Genet, Cardiff, S Glam, Wales

[11] Houston Methodist Neurol Inst, Dept Neurol, Houston, TX USA

[12] INSERM, UMR 1129, Paris, France

[13] Hop La Pitie Salpetriere, Inst Myol, Paris, France

[14] Inst Myol, Unite Clin Pathol Neuromusculaire, Paris, France

[15] Univ Utah, Dept Pediat, Salt Lake City, UT USA

[16] Indiana Univ, Krannert Inst Cardiol, Indianapolis, IN 46204 USA

[17] Univ Sussex, Brighton & Sussex Med Sch, Dept Neurosci, Brighton, E Sussex, England

[18] IRCCS Santa Lucia Fdn, Neuroimaging Lab, Rome, Italy

[19] Iowa City VA Med Ctr, Hosp & Palliat Care Program, Salt Lake City, UT USA

[20] Univ Utah, Clin Genet Obstet & Gynecol, Maternal Fetal Med, Salt Lake City, UT USA

[21] Univ Western Ontario, Dept Paediat & Clin Neurol Sci, London, ON, Canada

[22] Radboud Univ Nijmegen, Med Ctr, Dept Rehabil, Nijmegen, Netherlands

[23] Stanford Univ, Dept Neurol & Pediat, Palo Alto, CA 94304 USA

[24] Fdn Serena, NEMO Clin Ctr, Milan, Italy

[25] Paris Decartes Univ, Cochin Hosp, Dept Cardiol, Paris, France

[26] Stanford Univ, Sch Med, Palo Alto, CA 94304 USA

[27] Univ Rochester, Dept Neurol, Rochester, NY 14627 USA

[28] Queen Silvia Childrens Hosp, Reg Pediat Rehabil Ctr, Gothenburg, Sweden

[29] Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Nijmegen, Netherlands

[30] Mt Sinai Med Ctr, Sleep Disorders Ctr, Dept Med, Miami Beach, FL 33140 USA

[31] Grp Hosp Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France

[32] Univ Calif San Francisco, Dept Anesthesia & Perioperat Care, San Francisco, CA 94143 USA

[33] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Rockville, MD USA

[34] Cegep de Jonquiere, ECOBES, Rech & Transfert, Jonquiere, PQ, Canada

[35] Georgetown Univ Hosp, Medstar Washington Hosp Ctr, Dept Opthalmol, Washington, DC USA

[36] Univ Rochester, Dept Neurol, Ctr Hlth & Technol CHET, Rochester, NY 14627 USA

[37] Univ Rochester, Dept Neurol, Rochester, NY 14627 USA

[38] Houston Methodist Neurol Inst, Dept Pulmonol, Houston, TX USA

[39] Karolinska Inst, Dept Neurobiol, Care Sci & Soc, Stockholm, Sweden

[40] Karolinska Univ Hosp, Funct Area Occupat Therapy & Physiotherapy, Stockholm, Sweden

[41] London Hlth Sci Ctr Univ Campus, Neuromuscular Clin, London, ON, Canada

[42] Univ Utah, Dept Neurol, Salt Lake City, UT USA

[43] Radboud Univ Nijmegen, Med Ctr, Dept Rehabil, Nijmegen, Netherlands

[44] NINDS, Hereditary Muscle Dis Unit, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[45] Univ Glasgow, Coll Med Vet & Life Sci, Inst Mol, Cell & Syst Biol, Glasgow, Lanark, Scotland

[46] Univ Iowa, Dept Psychiat, Iowa City, IA 52242 USA

[47] Hosp Univ Penn, Cardiac Electrophysiol, 3400 Spruce St, Philadelphia, PA 19104 USA

[48] Stanford Univ, Dept Gastroenterol & Hepatol, Palo Alto, CA 94304 USA

[49] Univ Iowa, Dept Psychiat, Iowa City, IA 52242 USA

[50] Southern Gen Hosp, NHS Greater Glasgow & Clyde, Dept Neurol, Glasgow, Lanark, Scotland

来源：

NEUROLOGY-CLINICAL PRACTICE | 2018年 / 8卷 / 06期

关键词：

D O I：

10.1212/CPJ.0000000000000531

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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

引用

页码：507 / 520

页数：14

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