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. Day; Elisa 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

doi:10.1212/CPJ.0000000000000531

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

Medicine

Research output: Contribution to journal › Review 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 language	English (US)
Pages (from-to)	507-520
Number of pages	14
Journal	Neurology: Clinical Practice
Volume	8
Issue number	6
DOIs	https://doi.org/10.1212/CPJ.0000000000000531
State	Published - Dec 1 2018

ASJC Scopus subject areas

Clinical Neurology

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Ashizawa, T., Gagnon, C., Groh, W. J., Gutmann, L., Johnson, N. E., Meola, G., Moxley, R., Pandya, S., Rogers, M. T., Simpson, E., Angeard, N., Bassez, G., Berggren, K. N., Bhakta, D., Bozzali, M., Broderick, A., Byrne, J. L. B., Campbell, C., Cup, E., ... Winblad, S. (2018). Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurology: Clinical Practice, 8(6), 507-520. https://doi.org/10.1212/CPJ.0000000000000531

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; Van Engelen, Baziel; 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, Careniña; Tomaselli, Gordon; Turner, Chris; Verma, Aparajitha; White, Molly; Winblad, Stefan.

In: Neurology: Clinical Practice, Vol. 8, No. 6, 01.12.2018, p. 507-520.

Research output: Contribution to journal › Review article

Ashizawa, T, Gagnon, C, Groh, WJ, Gutmann, L, Johnson, NE, Meola, G, Moxley, R, 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, Verma, A, White, M & Winblad, S 2018, 'Consensus-based care recommendations for adults with myotonic dystrophy type 1', Neurology: Clinical Practice, vol. 8, no. 6, pp. 507-520. https://doi.org/10.1212/CPJ.0000000000000531

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 ; Van Engelen, Baziel ; 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, Careniña ; Tomaselli, Gordon ; Turner, Chris ; Verma, Aparajitha ; White, Molly ; Winblad, Stefan. / Consensus-based care recommendations for adults with myotonic dystrophy type 1. In: Neurology: Clinical Practice. 2018 ; Vol. 8, No. 6. pp. 507-520.

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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.",

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

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AU - Ashizawa, Tetsuo

AU - Gagnon, Cynthia

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AU - Johnson, Nicholas E.

AU - Meola, Giovanni

AU - Moxley, Richard

AU - Pandya, Shree

AU - Rogers, Mark T.

AU - Simpson, Ericka

AU - Angeard, Nathalie

AU - Bassez, Guillaume

AU - Berggren, Kiera N.

AU - Bhakta, Deepak

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AU - Day, John W.

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AU - Duboc, Denis

AU - Duong, Tina

AU - Eichinger, Katy

AU - Ekstrom, Anne Berit

AU - Van Engelen, Baziel

AU - Esparis, Belen

AU - Eymard, Bruno

AU - Ferschl, Marla

AU - Gadalla, Shahinaz M.

AU - Gallais, Benjamin

AU - Goodglick, Todd

AU - Heatwole, Chad

AU - Hilbert, James

AU - Holland, Venessa

AU - Kierkegaard, Marie

AU - Koopman, Wilma J.

AU - Lane, Kari

AU - Maas, Daphne

AU - Mankodi, Ami

AU - Mathews, Katherine D.

AU - Monckton, Darren G.

AU - Moser, David

AU - Nazarian, Saman

AU - Nguyen, Linda

AU - Nopoulos, Peg

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AU - Richer, Louis

AU - Roma, Elisabetta

AU - Sampson, Jacinda

AU - Sansone, Valeria

AU - Schoser, Benedikt

AU - Sterling, Laurie

AU - Statland, Jeffrey

AU - Subramony, S. H.

AU - Tian, Cuixia

AU - Trujillo, Careniña

AU - Tomaselli, Gordon

AU - Turner, Chris

AU - Verma, Aparajitha

AU - White, Molly

AU - Winblad, Stefan

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AB - 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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