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 | |
| State | Published - Dec 1 2018 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
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
}
TY - JOUR
T1 - Consensus-based care recommendations for adults with myotonic dystrophy type 1
AU - Ashizawa, Tetsuo
AU - Gagnon, Cynthia
AU - Groh, William J.
AU - Gutmann, Laurie
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
AU - Bozzali, Marco
AU - Broderick, Ann
AU - Byrne, Janice L.B.
AU - Campbell, Craig
AU - Cup, Edith
AU - Day, John W.
AU - De Mattia, Elisa
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
AU - Petty, Richard
AU - Phetteplace, Janel
AU - Puymirat, Jack
AU - Raman, Subha
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
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=85060818972&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85060818972&partnerID=8YFLogxK
U2 - 10.1212/CPJ.0000000000000531
DO - 10.1212/CPJ.0000000000000531
M3 - Review article
AN - SCOPUS:85060818972
VL - 8
SP - 507
EP - 520
JO - Neurology: Clinical Practice
JF - Neurology: Clinical Practice
SN - 2163-0402
IS - 6
ER -