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

Tetsuo Ashizawa, Cynthia Gagnon, William J. Groh, Laurie Gutmann, Nicholas E. Johnson, Giovanni Meola, Richard Moxley, Shree Pandya, Mark T. Rogers, Ericka Simpson, Nathalie Angeard, Guillaume Bassez, Kiera N. Berggren, Deepak Bhakta, Marco Bozzali, Ann Broderick, Janice L.B. Byrne, Craig Campbell, Edith Cup, John W. DayElisa De Mattia, Denis Duboc, Tina Duong, Katy Eichinger, Anne Berit Ekstrom, Baziel Van Engelen, Belen Esparis, Bruno Eymard, Marla Ferschl, Shahinaz M. Gadalla, Benjamin Gallais, Todd Goodglick, Chad Heatwole, James Hilbert, Venessa Holland, Marie Kierkegaard, Wilma J. Koopman, Kari Lane, Daphne Maas, Ami Mankodi, Katherine D. Mathews, Darren G. Monckton, David Moser, Saman Nazarian, Linda Nguyen, Peg Nopoulos, Richard Petty, Janel Phetteplace, Jack Puymirat, Subha Raman, Louis Richer, Elisabetta Roma, Jacinda Sampson, Valeria Sansone, Benedikt Schoser, Laurie Sterling, Jeffrey Statland, S. H. Subramony, Cuixia Tian, Careniña Trujillo, Gordon Tomaselli, Chris Turner, Aparajitha Verma, Molly White, Stefan Winblad

Research output: Contribution to journalReview article

26 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)507-520
Number of pages14
JournalNeurology: Clinical Practice
Volume8
Issue number6
DOIs
StatePublished - Dec 1 2018

ASJC Scopus subject areas

  • Clinical Neurology

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