title: Hereditary neuromuscular diseases.
abstract: This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.
authors.affiliation: Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium. ozkan.ozsarlak@uza.be
authors.forename: O
authors.initials: O
authors.lastname: Ozsarlak
authors.forename: E
authors.initials: E
authors.lastname: Schepens
authors.forename: P M
authors.initials: PM
authors.lastname: Parizel
authors.forename: J W
authors.initials: JW
authors.lastname: Van Goethem
authors.forename: F
authors.initials: F
authors.lastname: Vanhoenacker
authors.forename: A M
authors.initials: AM
authors.lastname: De Schepper
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics; D009135:Muscular Diseases / Q000151:congenital / Q000276:immunology / Q000378:metabolism; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D020967:Myotonic Disorders / Q000175:diagnosis*; D009468:Neuromuscular Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D003402:Creatine Kinase