Proximal weakness and exercise-induced pain as first symptoms of oculopharyngeal muscular dystrophie

Authors
Lampe, JB Schafer, J Gartner, HJ Reichmann, H
Citation
Jb. Lampe et al., Proximal weakness and exercise-induced pain as first symptoms of oculopharyngeal muscular dystrophie, NERVENARZT, 72(8), 2001, pp. 652-655
Citations number
18
Categorie Soggetti
Neurology
Journal title
NERVENARZT
ISSN journal
00282804 → ACNP
Volume
72
Issue
8
Year of publication
2001
Pages
652 - 655
Database
ISI
SICI code
0028-2804(200108)72:8<652:PWAEPA>2.0.ZU;2-6
Abstract
A 54-year-old female patient presented with exercise-induced proximal muscl e pain and weakness of the lower limbs. One year after the onset of these s ymptoms she developed bilateral ptosis and dysphagia. Molecular genetic ana lysis of the poly(A) binding protein 2 gene (PABP2) confirmed the presumpti ve diagnosis of oculopharyngeal muscular dystrophy (OPMD). Exercise-induced proximal muscle pain and weakness are rarely initial symptoms of OPMD. We discuss therapeutic options and present an overview of the relevant literat ure.