The American Academy of Neurology and the American Association of Neuromuscular & Electrodiagnostic Medicine released an evidence-based guideline of the evaluation, diagnosis, and management of congenital muscular dystrophy (CMD), with the following key points:
• Determining the correct subtype-specific diagnosis in children with suspected CMD requires an accurate assessment of clinical presentation and genetic features, including geographic and ethnic backgrounds, brain imaging studies, muscle imaging studies, and muscle biopsies.
• Genetic testing can confirm some subtype-specific diagnoses, but not all CMD- and subtype-related genes have been identified.
• Multiorgan system complications, seizures, and respiratory problems may occur in specific subtypes, and surveillance with prompt intervention is beneficial.
• There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes. More research is needed to fill the gaps in knowledge about CMD.
Citation: Kang PB, Morrison L, Iannaccone ST, et al. 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. Neurology. 2015;84(13):1369-1378. doi: 10.1212/WNL.0000000000001416.