title: Congenital muscular dystrophies: a brief review.
abstract: Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is compatible with a dystrophic myopathy. In the past 10 years, knowledge of neuromuscular disorders has dramatically increased, particularly with the exponential boost of disclosing the genetic background of CMDs. This review will highlight the clinical description of the most important forms of CMD, paying particular attention to the main keys for diagnostic approach. The diagnosis of CMDs requires the concurrence of expertise in multiple specialties (neurology, morphology, genetics, neuroradiology) available in a few centers worldwide that have achieved sufficient experience with the different CMD subtypes. Currently, molecular diagnosis is of paramount importance not only for phenotype-genotype correlations, genetic and prenatal counseling, and prognosis and aspects of management, but also concerning the imminent availability of clinical trials and treatments.
authors.affiliation: Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Diseases and Department of Neurosciences, IRCCS-Children's Hospital Bambino Gesù, Rome, Italy. ebertini@tin.it
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
mesh_terms: D024142:Collagen Type VI / Q000172:deficiency; D056726:Genetic Association Studies; D006801:Humans; D007797:Laminin / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
chemical_list: D024142:Collagen Type VI; D007797:Laminin