title: Prenatal diagnosis of congenital myopathies and muscular dystrophies.
abstract: Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases.
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Massalska
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: J G
authors.initials: JG
authors.lastname: Zimowski
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Bijok
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Kucińska-Chahwan
authors.affiliation: Department of Neurology, Medical University of Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Łusakowska
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: G
authors.initials: G
authors.lastname: Jakiel
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: T
authors.initials: T
authors.lastname: Roszkowski
mesh_terms: D005817:Genetic Counseling; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000473:pathology; D009224:Myotonia Congenita / Q000175:diagnosis* / Q000473:pathology; D011296:Prenatal Diagnosis
keywords: Duchenne and Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; facioscapulohumeral muscular dystrophy; limb-girdle muscular dystrophy; myotonic dystrophy; myotubular myopathy; nemaline myopathy