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

Ashizawa T; Gagnon C; Groh WJ; Gutmann L; Johnson NE; G. Meola; Moxley R 3rd; Pandya S; Rogers MT; Simpson E; Angeard N; Bassez G; Berggren KN; Bhakta D; Bozzali M; Broderick A; Byrne JLB; Campbell C; Cup E; Day JW; De Mattia E; Duboc D; Duong T; Eichinger K; Ekstrom AB; van Engelen B; Esparis B; Eymard B; Ferschl M; Gadalla SM; Gallais B; Goodglick T; Heatwole C; Hilbert J; Holland V; Kierkegaard M; Koopman WJ; Lane K; Maas D; Mankodi A; Mathews KD; Monckton DG; Moser D; Nazarian S; Nguyen L; Nopoulos P; Petty R; Phetteplace J; Puymirat J; Raman S; Richer L; Roma E; Sampson J; Sansone V; Schoser B; Sterling L; Statland J; Subramony SH; Tian C; Trujillo C; Tomaselli G; Turner C; Venance S; Verma A; White M; Winblad S

doi:10.1212/cpj.0000000000000531

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

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, G. Meola, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S

Neurology. Clinical practice · 2018 · doi:10.1212/cpj.0000000000000531 · PMID:30588381 · PMC6294540

OA: gold

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Abstract

Purpose of reviewMyotonic 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 findingsThe 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.SummaryThe 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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