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.
Consensus-based care recommendations for adults with myotonic dystrophy type 1 / A.T. 3., C. Gagnon, W. Groh, L. Gutmann, N. Johnson, G. Meola, R.3. Moxley, S. Pandya, M. Rogers, E. Simpson, N. Angeard, G. Bassez, K. Berggren, D. Bhakta, M. Bozzali, A. Broderick, J. Byrne, C. Campbell, E. Cup, J. Day, E. De Mattia, D. Duboc, T. Duong, K. Eichinger, A. Ekstrom, B. van Engelen, B. Esparis, B. Eymard, M. Ferschl, S. Gadalla, B. Gallais, T. Goodglick, C. Heatwole, J. Hilbert, V. Holland, M. Kierkegaard, W. Koopman, K. Lane, D. Maas, A. Mankodi, K. Mathews, D. Monckton, D. Moser, S. Nazarian, L. Nguyen, P. Nopoulos, R. Petty, J. Phetteplace, J. Puymirat, S. Raman, L. Richer, E. Roma, J. Sampson, V. Sansone, B. Schoser, L. Sterling, J. Statland, S. Subramony, C. Tian, C. Trujillo, G. Tomaselli, C. Turner, S. Venance, A. Verma, M. White, S. Winblad. - In: NEUROLOGY. CLINICAL PRACTICE. - ISSN 2163-0933. - 8:6(2018 Dec 01), pp. 507-520.
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
G. Meola;M. Bozzali;V. Sansone;
2018
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.
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