title: Differential diagnosis of congenital muscular dystrophies.
abstract: Congenital muscular dystrophies (CMDs) are defined by signs of muscle weakness in the first 6 months of life with myopathic changes in muscle biopsy. The progress in the last decade has helped to make molecular and genetic diagnoses in the majority of patients fulfilling these criteria. In a number of patients a definite diagnosis cannot be reached and these individuals are often grouped together as "merosin positive" congenital muscular dystrophy. In the last 5 years, 25 patients referred for assessment as possible congenital muscular dystrophy have been found to have alternative diagnoses. This paper aims to highlight these conditions as the common differentials or more difficult to diagnoses to consider in patients presenting as CMD.
authors.affiliation: Department of Neurology, University Children's Hospital Zurich, Switzerland.
authors.forename: Andrea
authors.initials: A
authors.lastname: Klein
authors.forename: Emma
authors.initials: E
authors.lastname: Clement
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D015415:Biomarkers / Q000032:analysis / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000151:congenital / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007797:Laminin / Q000032:analysis / Q000378:metabolism; D007866:Leg / Q000473:pathology / Q000503:physiopathology; D008297:Male; D009124:Muscle Proteins / Q000235:genetics; D018908:Muscle Weakness / Q000151:congenital / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000145:classification / Q000150:complications / Q000151:congenital* / Q000175:diagnosis*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012189:Retrospective Studies
chemical_list: D015415:Biomarkers; D005819:Genetic Markers; D007797:Laminin; D009124:Muscle Proteins