[Proximal weakness and exercise-induced pain as initial symptom of oculopharyngeal muscular dystrophy].
A 54-year-old female patient presented with exercise-induced proximal muscle pain and weakness of the lower limbs. One year after the onset of these symptoms she developed bilateral ptosis and dysphagia. Molecular genetic analysis of the poly(A) binding protein 2 gene (PABP2) confirmed the presumptive 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 literature.
Lampe
J B
JB
Klinik für Neurologie, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden.
Schäfer
J
J
Gärtner
H J
HJ
Reichmann
H
H
D000483:Alleles; D000682:Amyloid / Q000032:analysis; D001706:Biopsy; D003937:Diagnosis, Differential; D015444:Exercise; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D010146:Pain / Q000209:etiology*; D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins / Q000235:genetics; D018911:Trinucleotide Repeats
D000682:Amyloid; D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins
Proximale Schwäche und belastungsabhängige Schmerzen als Erstsymptome einer okulopharyngealen Muskeldystrophie.