["Therapy-resistant polymyositis" - is the diagnosis correct?] / "Therapierefraktäre Polymyositis" stimmt die Diagnose?
Z Rheumatol
; 76(7): 640-643, 2017 Sep.
Article
en De
| MEDLINE
| ID: mdl-28523511
We report the case of a 32-year-old woman with severely elevated serum creatine kinase (CK; 80,000 U/l) and progressive proximal pareses. As muscular biopsy showed inflammatory infiltrates, polymyositis was suspected and immunosuppressive treatment was initiated. However, clinical improvement could not be achieved. Gene sequencing of the DYSF-gene showed a previously unreported homozygous mutation. In summary, elevated serum CK and inflammatory infiltrates in the muscle biopsy are not specific for polymyositis, but may also occur in degenerative diseases (muscular dystrophy), such as dysferlinopathy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimiositis
/
Distrofia Muscular de Cinturas
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Disferlina
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Inmunosupresores
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Female
/
Humans
Idioma:
De
Revista:
Z Rheumatol
Año:
2017
Tipo del documento:
Article
Pais de publicación:
Alemania