title: Congenital muscular dystrophy: a review of the literature.
abstract: Congenital muscular dystrophy (CMD) is a condition in which there are already at birth, marked hypotonia, generalized muscle weakness and frequently multiple contractures. CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD without severe impairment of intellectual development; CMD II, the Fukuyama type CMD with muscle and structural brain abnormalities; CMD III and IV with muscle, eye and brain abnormalities; the milder Finnish type CMD (CMD III) and the severe Walker-Warburg syndrome (CMD IV). Data of the literature concerning those different CMD types have been reviewed and are presented with emphasis on signs and symptoms, clinical course, laboratory, neurophysiological, radiological, morphological and genetic characteristics.
authors.affiliation: Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands.
authors.forename: Q H
authors.initials: QH
authors.lastname: Leyten
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D009460:Neurologic Examination; D013577:Syndrome