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

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Ashizawa, Tetsuo | Gagnon, Cynthia | Groh, William | Gutmann, Laurie | Johnson, Nicholas | Meola, Giovanni | Moxley, Richard | Pandya, Shree | Rogers, Mark | Simpson, Ericka | Angeard, Nathalie | Bassez, Guillaume | Berggren, Kiera | Bhakta, Deepak | Bozzali, Marco | Broderick, Ann | Byrne, Janice L.B. | Campbell, Craig | Cup, Edith | Day, John | de Mattia, Elisa | Duboc, Denis | Duong, Tina | Eichinger, Katy | Ekstrom, Anne-Berit | van Engelen, Baziel | Esparis, Belen | Eymard, Bruno | Ferschl, Marla | Gadalla, Shahinaz | Gallais, Benjamin | Goodglick, Todd | Heatwole, Chad | Hilbert, James | Holland, Venessa | Kierkegaard, Marie | Koopman, Wilma | Lane, Kari | Maas, Daphne | Mankodi, Ami | Mathews, Katherine | Monckton, Darren | 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

Edité par CCSD ; The American Academy of Neurology -

International audience. 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.

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