["Therapy-resistant polymyositis" - is the diagnosis correct?]
G Ceccon1, H C Lehmann1, E Neuen-Jacob2
1Klinik und Poliklinik für Neurologie, Universitätsklinikum Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
Zeitschrift Fur Rheumatologie
|May 20, 2017
Summary
Elevated creatine kinase and muscle inflammation can indicate polymyositis or dysferlinopathy, a muscular dystrophy. A novel DYSF gene mutation highlights the need for genetic testing in diagnosing such cases.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Severely elevated serum creatine kinase (CK) and progressive proximal paresis are key clinical indicators.
- Muscle biopsy revealing inflammatory infiltrates often suggests polymyositis.
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