Consensus Statement on Standard of Care for Congenital Myopathies

Author:

Wang Ching H.1,Dowling James J.2,North Kathryn3,Schroth Mary K.4,Sejersen Thomas5,Shapiro Frederic6,Bellini Jonathan1,Weiss Hali1,Guillet Marc7,Amburgey Kimberly2,Apkon Susan8,Bertini Enrico9,Bonnemann Carsten10,Clarke Nigel3,Connolly Anne M.11,Estournet-Mathiaud Brigitte12,Fitzgerald Dominic3,Florence Julaine M.11,Gee Richard1,Gurgel-Giannetti Juliana13,Glanzman Allan M.14,Hofmeister Brittany1,Jungbluth Heinz15,Koumbourlis Anastassios C.16,Laing Nigel G.17,Main Marion18,Morrison Leslie A.19,Munns Craig3,Rose Kristy3,Schuler Pamela M.20,Sewry Caroline18,Storhaug Kari21,Vainzof Mariz22,Yuan Nanci1

Affiliation:

1. Stanford University School of Medicine, Stanford, CA, USA

2. University of Michigan, Ann Arbor, MI, USA

3. University of Sydney, Westmead, Australia

4. University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

5. Karolinska Institute, Stockholm, Sweden

6. Harvard School of Medicine, Boston, MA, USA

7. A Foundation Building Strength, Palo Alto, CA, USA

8. Seattle Children’s Hospital, Seattle, WA, USA

9. Bambino Gesu’ Children’s Research Hospital, Rome, Italy

10. National Institutes of Health, Bethesda, MD, USA

11. Washington University School of Medicine, St Louis, MO, USA

12. Hôpital Raymond Poincaré, Garches, France

13. Federal University of Minas Gerais, Belo Horizonte, Brazil

14. The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

15. Evelina Children’s Hospital, London, UK

16. Children’s National Medical Center, Washington, DC, USA

17. University of Western Australia, Nedlands, Australia

18. Dubowitz Neuromuscular Centre, London, UK

19. University of New Mexico School of Medicine, Albuquerque, New Mexico

20. University of Florida, Gainesville, FL, USA

21. National Resource Centre for Oral Health in Rare Medical Conditions, Oslo Norway

22. University of Sao Paulo, Sao Paulo, Brazil

Abstract

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.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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