title: Muscular dystrophy in a patient with multiple sclerosis. Another "double-trouble"?
abstract: Facioscapulohumeral muscular dystrophy (FSHD) is considered a relatively common muscular dystrophy affecting approximately 1:15,000 individuals in the general population. Single case reports have described the rare co-occurrence of FSHD with other hereditary neuromuscular disorders, leading to atypical phenotypes. We report herein the case of a 26-year-old woman with genetically proven FSHD, who additionally developed otherwise typical multiple sclerosis (MS). Although there is no direct relationship between FSHD and MS, they might, nevertheless, share some common pathophysiological mechanisms, as recent research suggests. In particular, we comment on the potential, but not yet proven, role of immunological factors in the pathogenesis of FSHD.
authors.affiliation: 2nd Department of Neurology, AHEPA University Hospital, 1 Stilponos Kyriakidi Street, 54636 Thessaloniki, Greece.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Parissis
authors.affiliation: 2nd Department of Neurology, AHEPA University Hospital, 1 Stilponos Kyriakidi Street, 54636 Thessaloniki, Greece.
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Ioannidis
authors.affiliation: 2nd Department of Neurology, AHEPA University Hospital, 1 Stilponos Kyriakidi Street, 54636 Thessaloniki, Greece. Electronic address: zoolbak@yahoo.gr.
authors.forename: Christos
authors.initials: C
authors.lastname: Bakirtzis
authors.affiliation: 2nd Department of Neurology, AHEPA University Hospital, 1 Stilponos Kyriakidi Street, 54636 Thessaloniki, Greece.
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Grigoriadis
authors.affiliation: 2nd Department of Neurology, AHEPA University Hospital, 1 Stilponos Kyriakidi Street, 54636 Thessaloniki, Greece.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Karacostas
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D009103:Multiple Sclerosis / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D013116:Spinal Cord / Q000473:pathology
keywords: Dystrophy; Facioscapulohumeral; Multiple; Muscular; Sclerosis