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Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Kang, Peter B; Morrison, Leslie; Iannaccone, Susan T; Graham, Robert J; Bönnemann, Carsten G; Rutkowski, Anne; Hornyak, Joseph; Wang, Ching H; North, Kathryn; Oskoui, Maryam; Getchius, Thomas S D; Cox, Julie A; Hagen, Erin E; Gronseth, Gary; Griggs, Robert C.
Afiliação
  • Kang PB; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Morrison L; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Iannaccone ST; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Graham RJ; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Bönnemann CG; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Rutkowski A; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Hornyak J; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Wang CH; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • North K; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Oskoui M; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Getchius TS; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Cox JA; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Hagen EE; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Gronseth G; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
  • Griggs RC; From the Division of Pediatric Neurology (P.B.K.), University of Florida College of Medicine, Gainesville; Department of Neurology (P.B.K.), Boston Children's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (L.M.), University of New Mexico, Albuquerque; Departments of Pediat
Neurology ; 84(13): 1369-78, 2015 Mar 31.
Article em En | MEDLINE | ID: mdl-25825463
ABSTRACT

OBJECTIVE:

To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature.

METHODS:

Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care.

RESULTS:

The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications.

RECOMMENDATIONS:

Multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Medicina Baseada em Evidências / Gerenciamento Clínico / Distrofias Musculares Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Child, preschool / Humans Idioma: En Revista: Neurology Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Medicina Baseada em Evidências / Gerenciamento Clínico / Distrofias Musculares Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Child, preschool / Humans Idioma: En Revista: Neurology Ano de publicação: 2015 Tipo de documento: Article