TY - JOUR
T1 - Consensus statement on standard of care for congenital myopathies
AU - Wang, Ching H.
AU - Dowling, James J.
AU - North, Kathryn
AU - Schroth, Mary K.
AU - Sejersen, Thomas
AU - Shapiro, Frederic
AU - Bellini, Jonathan
AU - Weiss, Hali
AU - Guillet, Marc
AU - Amburgey, Kimberly
AU - Apkon, Susan
AU - Bertini, Enrico
AU - Bonnemann, Carsten
AU - Clarke, Nigel
AU - Connolly, Anne M.
AU - Estournet-Mathiaud, Brigitte
AU - Fitzgerald, Dominic
AU - Florence, Julaine M.
AU - Gee, Richard
AU - Gurgel-Giannetti, Juliana
AU - Glanzman, Allan M.
AU - Hofmeister, Brittany
AU - Jungbluth, Heinz
AU - Koumbourlis, Anastassios C.
AU - Laing, Nigel G.
AU - Main, Marion
AU - Morrison, Leslie A.
AU - Munns, Craig
AU - Rose, Kristy
AU - Schuler, Pamela M.
AU - Sewry, Caroline
AU - Storhaug, Kari
AU - Vainzof, Mariz
AU - Yuan, Nanci
PY - 2012/3
Y1 - 2012/3
N2 - 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.
AB - 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.
KW - cap
KW - central core
KW - centronuclear
KW - congenital myopathy
KW - myosin storage
KW - myotubular
KW - nemaline
KW - rod
KW - standard of care
KW - zebra body
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U2 - 10.1177/0883073812436605
DO - 10.1177/0883073812436605
M3 - Article
C2 - 22431881
AN - SCOPUS:84863345557
VL - 27
SP - 363
EP - 382
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 3
ER -