Consensus Statement on Standard of Care for Congenital Myopathies


Autoria(s): Wang, Ching H.; Dowling, James J.; North, Kathryn; Schroth, Mary K.; Sejersen, Thomas; Shapiro, Frederic; Bellini, Jonathan; Weiss, Hali; Guillet, Marc; Amburgey, Kimberly; Apkon, Susan; Bertini, Enrico; Bonnemann, Carsten; Clarke, Nigel; Connolly, Anne M.; Estournet-Mathiaud, Brigitte; Fitzgerald, Dominic; Florence, Julaine M.; Gee, Richard; Gurgel-Giannetti, Juliana; Glanzman, Allan M.; Hofmeister, Brittany; Jungbluth, Heinz; Koumbourlis, Anastassios C.; Laing, Nigel G.; Main, Marion; Morrison, Leslie A.; Munns, Craig; Rose, Kristy; Schuler, Pamela M.; Sewry, Caroline; Storhaug, Kari; Vainzof, Mariz; Yuan, Nanci
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

16/09/2013

16/09/2013

2012

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

http://dx.doi.org/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