Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy

Vasiliki Zouvelou; Panagiota Manta; Nikolaos Kalfakis; Ioannis Evdokimidis; Demetris Vassilopoulos

doi:10.1016/j.jocn.2008.12.004

Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy

J Clin Neurosci. 2009 Sep;16(9):1218-9. doi: 10.1016/j.jocn.2008.12.004. Epub 2009 Jun 6.

Authors

Vasiliki Zouvelou¹, Panagiota Manta, Nikolaos Kalfakis, Ioannis Evdokimidis, Demetris Vassilopoulos

Affiliation

¹ Department of Neurology, Eginition Hospital, University of Athens, 74 Vas. Sophias Avenue, Athens 11528, Greece. vzouvelu@med.uoa.gr

PMID: 19502063
DOI: 10.1016/j.jocn.2008.12.004

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.

Publication types

Case Reports

MeSH terms

Adult
Biopsy
Blotting, Southern
Creatine Kinase / blood*
Electrodiagnosis
Electromyography
Female
Humans
Muscle, Skeletal / pathology
Muscular Dystrophy, Facioscapulohumeral / diagnosis*
Muscular Dystrophy, Facioscapulohumeral / enzymology
Muscular Dystrophy, Facioscapulohumeral / genetics*

Substances

Creatine Kinase