title: Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy.
abstract: Persistent, asymptomatic (hyperCKemia) may be the prelude to, or the sole manifestation of, a neuromuscular disease. However, the clinical spectrum of facioscapulohumeral muscular dystrophy (FSHD) ranges from asymptomatic individuals with minimal clinical signs to patients who are wheelchair-bound. We describe a patient with persistent, asymptomatic hyperCKemia who received the diagnosis of 4q35 FSHD after a thorough stepwise investigation.
authors.affiliation: Department of Neurology, Eginition Hospital, University of Athens, 74 Vas. Sophias Avenue, Athens 11528, Greece. vzouvelu@med.uoa.gr
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Zouvelou
authors.forename: Panagiota
authors.initials: P
authors.lastname: Manta
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Kalfakis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Evdokimidis
authors.forename: Demetris
authors.initials: D
authors.lastname: Vassilopoulos
mesh_terms: D000328:Adult; D001706:Biopsy; D015139:Blotting, Southern; D003402:Creatine Kinase / Q000097:blood*; D004568:Electrodiagnosis; D004576:Electromyography; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*
chemical_list: D003402:Creatine Kinase