Consensus-based care recommendations for adults with myotonic dystrophy type 2

被引:26
|
作者
Schoser, Benedikt [1 ]
Montagnese, Federica [2 ]
Bassez, Guillaume [3 ]
Fossati, Barbara [4 ]
Gamez, Josep [5 ]
Heatwole, Chad [6 ]
Hilbert, James [6 ]
Kornblum, Cornelia [7 ]
Kostera-Pruszczyk, Anne [8 ]
Krahe, Ralf [9 ]
Lusakowska, Anna [8 ]
Meola, Giovanni [10 ]
Moxley, Richard, III [6 ]
Thornton, Charles [6 ]
Udd, Bjarne [11 ]
Formaker, Paul [12 ]
机构
[1] Ludwig Maximilians Univ Munchen, Munich, Germany
[2] Friedrich Baur Inst, Munich, Germany
[3] Inst Myol, Paris, France
[4] IRCCS Policlin San Donato, UO Neurol, Milan, Italy
[5] Vall dHebron Univ Hosp, Barcelona, Spain
[6] Univ Rochester, Rochester, NY USA
[7] Univ Hosp Bonn, Bonn, Germany
[8] Med Univ Warsaw, Warsaw, Poland
[9] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA
[10] Univ Milan, Dept Biomed Sci Hlth, Milan, Italy
[11] Tampere Univ, Tampere, Finland
[12] Myoton Dystrophy Fdn, San Francisco, CA 94129 USA
关键词
FREQUENCY;
D O I
10.1212/CPJ.0000000000000645
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Purpose of review Myotonic dystrophy type 2 (DM2) is a rare, progressive multi-system disease particularly affecting the skeletal muscle. A causal therapy is not yet available; however, prompt, appropriate symptomatic treatments are essential to limit disease-related complications. Evidence-based guidelines to assist medical practitioners in the care of DM2 patients do not exist. Recent findings The Myotonic Dystrophy Foundation (MDF) previously worked with an international group of 66 clinicians to develop consensus- based care recommendations for myotonic dystrophy type 1. Following a similar approach, the MDF recruited 15 international clinicians with long-standing experience in the care of DM2 patients to develop consensus-based care recommendations. The single text procedure was adopted. This process generated a 4-page Quick Reference Guide and a comprehensive 55-page document that provides care recommendations for DM2 patients. Summary The resulting recommendations will help standardize and improve care for DM2 patients and facilitate appropriate management in centers without neuromuscular specialists.
引用
收藏
页码:343 / 353
页数:11
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