Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. Clin Perinatol 2020 Mar;47(1):197-209
Date
02/01/2020Pubmed ID
32000926DOI
10.1016/j.clp.2019.10.005Scopus ID
2-s2.0-85075422301 (requires institutional sign-in at Scopus site) 1 CitationAbstract
The congenital muscular dystrophies and congenital myopathies are a heterogenous group of diseases with a wide variety of presentations and outcomes. With the growing understanding of genetic involvement, and developing therapies, having a genetically confirmed diagnosis with phenotype correlation is essential. To achieve this, a structured approach is warranted to each child to ensure that mimickers are excluded. By structuring the evaluation appropriately, the clinician can help expedite the evaluation of these infants in a cost-effective manner. Understanding the pitfalls of each step of testing will allow the clinician to better understand variants in presentation and avoid cognitive errors in the process.
Author List
Harmelink MAuthor
Matthew Harmelink MD Chief, Associate Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Diagnosis, DifferentialHumans
Infant, Newborn
Muscular Diseases
Muscular Dystrophies
Neonatal Screening
Phenotype