TY - JOUR
T1 - Consensus statement on standard of care for congenital muscular dystrophies
AU - Wang, Ching H.
AU - Bonnemann, Carsten G.
AU - Rutkowski, Anne
AU - Sejersen, Thomas
AU - Bellini, Jonathan
AU - Battista, Vanessa
AU - Florence, Julaine M.
AU - Schara, Ulrike
AU - Schuler, Pamela M.
AU - Wahbi, Karim
AU - Aloysius, Annie
AU - Bash, Robert O.
AU - Béroud, Christophe
AU - Bertini, Enrico
AU - Bushby, Kate
AU - Cohn, Ronald D.
AU - Connolly, Anne M.
AU - Deconinck, Nicolas
AU - Desguerre, Isabelle
AU - Eagle, Michelle
AU - Estournet-Mathiaud, Brigitte
AU - Ferreiro, Ana
AU - Fujak, Albert
AU - Goemans, Nathalie
AU - Iannaccone, Susan T.
AU - Jouinot, Patricia
AU - Main, Marion
AU - Melacini, Paola
AU - Mueller-Felber, Wolfgang
AU - Muntoni, Francesco
AU - Nelson, Leslie L.
AU - Rahbek, Jes
AU - Quijano-Roy, Susana
AU - Sewry, Caroline
AU - Storhaug, Kari
AU - Simonds, Anita
AU - Tseng, Brian
AU - Vajsar, Jiri
AU - Vianello, Andrea
AU - Zeller, Reinhard
PY - 2010/12
Y1 - 2010/12
N2 - 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.
AB - 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.
KW - congenital muscular dystrophy
KW - standard of care
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U2 - 10.1177/0883073810381924
DO - 10.1177/0883073810381924
M3 - Article
C2 - 21078917
AN - SCOPUS:78650184558
SN - 0883-0738
VL - 25
SP - 1559
EP - 1581
JO - Journal of child neurology
JF - Journal of child neurology
IS - 12
ER -