Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy.
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.
Zouvelou
Vasiliki
V
Department of Neurology, Eginition Hospital, University of Athens, 74 Vas. Sophias Avenue, Athens 11528, Greece. vzouvelu@med.uoa.gr
Manta
Panagiota
P
Kalfakis
Nikolaos
N
Evdokimidis
Ioannis
I
Vassilopoulos
Demetris
D
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*
D003402:Creatine Kinase