Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
Ching Wang
,
Carsten G Bonnemann
,
Anne Rutkowski
,
Thomas Sejersen
,
Jonathan Bellini
,
Vanessa Battista
,
Julaine M Florence
,
Ulrike Schara
,
Pamela M Schuler
,
Kari Wahbi
,
Annie Aloysius
,
Robert O Bash
,
Christophe Béroud
(1)
,
Enrico Bertini
(2)
,
Kate Bushby
(3)
,
Ronald D Cohn
,
Anne M Connolly
,
Nicolas Deconinck
(4)
,
Isabelle Desguerre
(5)
,
Michelle Eagle
(3)
,
Brigitte Estournet-Mathiaud
(6)
,
Ana Ferreiro
(7)
,
Albert Fujak
,
Nathalie Goemans
,
Susan T Iannaccone
(8)
,
Patricia Jouinot
,
Marion Main
,
Paola Melacini
,
Wolfgang Mueller-Felber
,
Francesco Muntoni
(9)
,
Leslie L Nelson
,
Jes Rahbek
,
Susana Quijano-Roy
(10)
,
Caroline Sewry
(11)
,
Kari Storhaug
,
Anita Simonds
,
Brian Tseng
,
Jiri Vajsar
,
Andrea Vianello
,
Reinhard Zeller
(12)
,
International Standard of Care Committee For Congenital Muscular Dystrophy
1
LGMR -
Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques
2 Dept. Medical Biochemistry, Biology and Physics
3 Department of Neurology
4 UGENT - Universiteit Gent = Ghent University
5 Service de neurologie pédiatrique [CHU Necker]
6 Hôpital Raymond Poincaré [AP-HP]
7 Physiopathologie et thérapie du muscle strié
8 Texas Scottish Rite Hospital for Children
9 The Dubowitz Neuromuscular Centre
10 Institut de Myologie
11 RJAH Orthopaedic NHS Trust
12 Hôpital Cochin [AP-HP]
2 Dept. Medical Biochemistry, Biology and Physics
3 Department of Neurology
4 UGENT - Universiteit Gent = Ghent University
5 Service de neurologie pédiatrique [CHU Necker]
6 Hôpital Raymond Poincaré [AP-HP]
7 Physiopathologie et thérapie du muscle strié
8 Texas Scottish Rite Hospital for Children
9 The Dubowitz Neuromuscular Centre
10 Institut de Myologie
11 RJAH Orthopaedic NHS Trust
12 Hôpital Cochin [AP-HP]
Ching Wang
- Function : Author
Carsten G Bonnemann
- Function : Author
Anne Rutkowski
- Function : Author
Thomas Sejersen
- Function : Author
Jonathan Bellini
- Function : Author
Vanessa Battista
- Function : Author
Julaine M Florence
- Function : Author
Ulrike Schara
- Function : Author
Pamela M Schuler
- Function : Author
Kari Wahbi
- Function : Author
Annie Aloysius
- Function : Author
Robert O Bash
- Function : Author
Christophe Béroud
- Function : Author
- PersonId : 16989
- IdHAL : christophe-beroud
- ORCID : 0000-0003-2986-8738
- IdRef : 155036343
Ronald D Cohn
- Function : Author
Anne M Connolly
- Function : Author
Albert Fujak
- Function : Author
Nathalie Goemans
- Function : Author
Patricia Jouinot
- Function : Author
Marion Main
- Function : Author
Paola Melacini
- Function : Author
Wolfgang Mueller-Felber
- Function : Author
Francesco Muntoni
- Function : Author
- PersonId : 759030
- ORCID : 0000-0002-9102-5232
- IdRef : 077207912
Leslie L Nelson
- Function : Author
Jes Rahbek
- Function : Author
Kari Storhaug
- Function : Author
Anita Simonds
- Function : Author
Brian Tseng
- Function : Author
Jiri Vajsar
- Function : Author
Andrea Vianello
- Function : Author
Abstract
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.