Consensus Statement on Standard of Care for Congenital Myopathies

被引：124

作者：

Wang, Ching H. ^{[1
]}

Dowling, James J. ^{[2
]}

North, Kathryn ^{[3
]}

Schroth, Mary K. ^{[4
]}

Sejersen, Thomas ^{[5
]}

Shapiro, Frederic ^{[6
]}

Bellini, Jonathan ^{[1
]}

Weiss, Hali ^{[1
]}

Guillet, Marc ^{[7
]}

Amburgey, Kimberly ^{[2
]}

Apkon, Susan ^{[8
]}

Bertini, Enrico ^{[9
]}

Bonnemann, Carsten ^{[10
]}

Clarke, Nigel ^{[3
]}

Connolly, Anne M. ^{[11
]}

Estournet-Mathiaud, Brigitte ^{[12
]}

Fitzgerald, Dominic ^{[3
]}

Florence, Julaine M. ^{[11
]}

Gee, Richard ^{[1
]}

Gurgel-Giannetti, Juliana ^{[13
]}

Glanzman, Allan M. ^{[14
]}

Hofmeister, Brittany ^{[1
]}

Jungbluth, Heinz ^{[15
]}

Koumbourlis, Anastassios C. ^{[16
]}

Laing, Nigel G. ^{[17
]}

Main, Marion ^{[18
]}

Morrison, Leslie A. ^{[19
]}

Munns, Craig ^{[3
]}

Rose, Kristy ^{[3
]}

Schuler, Pamela M. ^{[20
]}

Sewry, Caroline ^{[18
]}

Storhaug, Kari ^{[21
]}

Vainzof, Mariz ^{[22
]}

Yuan, Nanci ^{[1
]}

机构：

[1] Stanford Univ, Sch Med, Stanford, CA 94305 USA

[2] Univ Michigan, Ann Arbor, MI 48109 USA

[3] Univ Sydney, Westmead, NSW 2145, Australia

[4] Univ Wisconsin, Sch Med & Publ Hlth, Madison, WI USA

[5] Karolinska Inst, Stockholm, Sweden

[6] Harvard Univ, Sch Med, Boston, MA USA

[7] Fdn Bldg Strength, Palo Alto, CA USA

[8] Seattle Childrens Hosp, Seattle, WA USA

[9] Bambino Gesu Childrens Res Hosp, Rome, Italy

[10] NIH, Bethesda, MD 20892 USA

[11] Washington Univ, Sch Med, St Louis, MO USA

[12] Hop Raymond Poincare, Garches, France

[13] Univ Fed Minas Gerais, Belo Horizonte, MG, Brazil

[14] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[15] Evelina Childrens Hosp, London, England

[16] Childrens Natl Med Ctr, Washington, DC 20010 USA

[17] Univ Western Australia, Nedlands, WA 6009, Australia

[18] Dubowitz Neuromuscular Ctr, London, England

[19] Univ New Mexico, Sch Med, Albuquerque, NM 87131 USA

[20] Univ Florida, Gainesville, FL USA

[21] Natl Resource Ctr Oral Hlth Rare Med Condit, Oslo, Norway

[22] Univ Sao Paulo, Sao Paulo, Brazil

来源：

JOURNAL OF CHILD NEUROLOGY | 2012年 / 27卷 / 03期

关键词：

standard of care; congenital myopathy; rod; myotubular; centronuclear; central core; cap; nemaline; zebra body; myosin storage; CENTRAL CORE DISEASE; ONSET NEMALINE MYOPATHY; LINKED MYOTUBULAR MYOPATHY; DUCHENNE MUSCULAR-DYSTROPHY; FIBER-TYPE DISPROPORTION; MULTI-MINICORE DISEASE; MALIGNANT HYPERTHERMIA; NEUROMUSCULAR DISEASE; NONINVASIVE VENTILATION; CENTRONUCLEAR MYOPATHY;

D O I：

10.1177/0883073812436605

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.

引用

页码：363 / 382

页数：20

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