title: Consensus statement on standard of care for congenital myopathies.
abstract: 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.
authors.affiliation: Stanford University School of Medicine, Stanford, CA, USA. ching.wang11@gmail.com
authors.forename: Ching H
authors.initials: CH
authors.lastname: Wang
authors.forename: James J
authors.initials: JJ
authors.lastname: Dowling
authors.forename: Kathryn
authors.initials: K
authors.lastname: North
authors.forename: Mary K
authors.initials: MK
authors.lastname: Schroth
authors.forename: Thomas
authors.initials: T
authors.lastname: Sejersen
authors.forename: Frederic
authors.initials: F
authors.lastname: Shapiro
authors.forename: Jonathan
authors.initials: J
authors.lastname: Bellini
authors.forename: Hali
authors.initials: H
authors.lastname: Weiss
authors.forename: Marc
authors.initials: M
authors.lastname: Guillet
authors.forename: Kimberly
authors.initials: K
authors.lastname: Amburgey
authors.forename: Susan
authors.initials: S
authors.lastname: Apkon
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Carsten
authors.initials: C
authors.lastname: Bonnemann
authors.forename: Nigel
authors.initials: N
authors.lastname: Clarke
authors.forename: Anne M
authors.initials: AM
authors.lastname: Connolly
authors.forename: Brigitte
authors.initials: B
authors.lastname: Estournet-Mathiaud
authors.forename: Dominic
authors.initials: D
authors.lastname: Fitzgerald
authors.forename: Julaine M
authors.initials: JM
authors.lastname: Florence
authors.forename: Richard
authors.initials: R
authors.lastname: Gee
authors.forename: Juliana
authors.initials: J
authors.lastname: Gurgel-Giannetti
authors.forename: Allan M
authors.initials: AM
authors.lastname: Glanzman
authors.forename: Brittany
authors.initials: B
authors.lastname: Hofmeister
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
authors.forename: Anastassios C
authors.initials: AC
authors.lastname: Koumbourlis
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
authors.forename: Marion
authors.initials: M
authors.lastname: Main
authors.forename: Leslie A
authors.initials: LA
authors.lastname: Morrison
authors.forename: Craig
authors.initials: C
authors.lastname: Munns
authors.forename: Kristy
authors.initials: K
authors.lastname: Rose
authors.forename: Pamela M
authors.initials: PM
authors.lastname: Schuler
authors.forename: Caroline
authors.initials: C
authors.lastname: Sewry
authors.forename: Kari
authors.initials: K
authors.lastname: Storhaug
authors.forename: Mariz
authors.initials: M
authors.lastname: Vainzof
authors.forename: Nanci
authors.initials: N
authors.lastname: Yuan
mesh_terms: D002985:Clinical Protocols / Q000592:standards*; D003226:Congresses as Topic; D014943:Global Health; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital / Q000175:diagnosis* / Q000628:therapy*; D059039:Standard of Care / Q000592:standards*