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

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; Engelen, Baziel van; 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, Carenina; Tomaselli, Gordon; Turner, Chris; Venance, Shannon; Verma, Aparajitha; White, Molly und Winblad, Stefan (2018): Consensus-based care recommendations for adults with myotonic dystrophy type 1. In: Neurology - Clinical Practice, Bd. 8, Nr. 6: S. 507-520

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

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 2163-0402
• Sprache: Englisch