Consensus-based care recommendations for adults with myotonic dystrophy type 1. Issue 6 (December 2018)

• Record Type: Journal Article
• Authors: Ashizawa, Tetsuo; Gagnon, Cynthia; Groh, William J.; Gutmann, Laurie; Johnson, Nicholas E.; Meola, Giovanni; Moxley, Richard; Pandya, Shree; Rogers, Mark T.; Simpson, Ericka; Angeard, Nathalie; Bassez, Guillaume; Berggren, Kiera N.; Bhakta, Deepak; Bozzali, Marco; Broderick, Ann; Byrne, Janice L.B.; Campbell, Craig; Cup, Edith; Day, John W.; De Mattia, Elisa; Duboc, Denis; Duong, Tina; Eichinger, Katy; Ekstrom, Anne-Berit; van Engelen, Baziel; Esparis, Belen; Eymard, Bruno; Ferschl, Marla; Gadalla, Shahinaz M.; Gallais, Benjamin; Goodglick, Todd; Heatwole, Chad; Hilbert, James; Holland, Venessa; Kierkegaard, Marie; Koopman, Wilma J.; Lane, Kari; Maas, Daphne; Mankodi, Ami; Mathews, Katherine D.; Monckton, Darren G.; Moser, David; Nazarian, Saman; Nguyen, Linda; Nopoulos, Peg; Petty, Richard; Phetteplace, Janel; Puymirat, Jack; Raman, Subha; Richer, Louis; Roma, Elisabetta; Sampson, Jacinda; Sansone, Valeria; Schoser, Benedikt; Sterling, Laurie; Statland, Jeffrey; Subramony, S.H.; Tian, Cuixia; Trujillo, Careniña; Tomaselli, Gordon; Turner, Chris; Venance, Shannon; Verma, Aparajitha; White, Molly; Winblad, Stefan;
• Is Part Of: Neurology. Volume 8:Issue 6(2018)
• Publication Date: 2018-12
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; Neurology -- United States -- Periodicals; 616.8
• DOI: 10.1212/CPJ.0000000000000531
• Languages: English
• ISSNs: 2163-0402

Abstract

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.