Consensus Statement on Standard of Care for Congenital Myopathies
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
16/09/2013
16/09/2013
2012
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Resumo |
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. A Foundation Building Strength A Foundation Building Strength TREAT-NMD TREATNMD |
Identificador |
JOURNAL OF CHILD NEUROLOGY, THOUSAND OAKS, v. 27, n. 3, pp. 363-382, MAR, 2012 0883-0738 http://www.producao.usp.br/handle/BDPI/33380 10.1177/0883073812436605 |
Idioma(s) |
eng |
Publicador |
SAGE PUBLICATIONS INC THOUSAND OAKS |
Relação |
JOURNAL OF CHILD NEUROLOGY |
Direitos |
restrictedAccess Copyright SAGE PUBLICATIONS INC |
Palavras-Chave | #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 #MIOPATIAS CONGÊNITAS ESTRUTURAIS #DOENÇAS MUSCULARES #DOENÇAS GENÉTICAS #ASSISTÊNCIA À SAÚDE #CONDUTAS TERAPÊUTICAS #CLINICAL NEUROLOGY #PEDIATRICS |
Tipo |
article original article publishedVersion |