1. Consensus-based care recommendations for adults with myotonic dystrophy type 1
- Author
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Ashizawa, T., Gagnon, C., Groh, W.J., Gutmann, L., Johnson, N.E., Meola, G., Moxley, R., 3rd, Pandya, S., Rogers, M.T., Simpson, E., Angeard, N., Bassez, G., Berggren, K.N., Bhakta, D., Bozzali, M., Broderick, A., Byrne, J.L., Campbell, C., Cup, E.H., Day, J.W., Mattia, E. De, Duboc, D., Duong, T., Eichinger, K., Ekstrom, A.B., Engelen, B. van, Esparis, B., Eymard, B., Ferschl, M., Gadalla, S.M., Gallais, B., Goodglick, T., Heatwole, C., Hilbert, J., Holland, V., Kierkegaard, M., Koopman, Wilma, Lane, K., Maas, D, Mankodi, A., Mathews, K.D., Monckton, D.G., 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, S.H., Tian, C., Trujillo, C., Tomaselli, G., Turner, C., Venance, S., Verma, A., White, M., Winblad, S., Ashizawa, T., Gagnon, C., Groh, W.J., Gutmann, L., Johnson, N.E., Meola, G., Moxley, R., 3rd, Pandya, S., Rogers, M.T., Simpson, E., Angeard, N., Bassez, G., Berggren, K.N., Bhakta, D., Bozzali, M., Broderick, A., Byrne, J.L., Campbell, C., Cup, E.H., Day, J.W., Mattia, E. De, Duboc, D., Duong, T., Eichinger, K., Ekstrom, A.B., Engelen, B. van, Esparis, B., Eymard, B., Ferschl, M., Gadalla, S.M., Gallais, B., Goodglick, T., Heatwole, C., Hilbert, J., Holland, V., Kierkegaard, M., Koopman, Wilma, Lane, K., Maas, D, Mankodi, A., Mathews, K.D., Monckton, D.G., 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, S.H., Tian, C., Trujillo, C., Tomaselli, G., Turner, C., Venance, S., Verma, A., White, M., and Winblad, S.
- Abstract
Item does not contain fulltext, 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.
- Published
- 2018