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Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness.
J. Neuromuscul. Dis., DOI: 10.1177/22143602251385048 (2025)
Slowly progressive proximal muscle weakness in an otherwise healthy male posed particular challenges for the treating physicians, considering the wide range of possible differentials. Here we present a case of a 52-year-old male with paraparesis, elevated creatine kinase-levels, antibodies against the Mi-2 antigen and subtle skin lesions, leading to subsequent treatment for dermatomyositis. Beyond that, exome sequencing revealed biallelic variants in the gene encoding acid alpha-glucosidase with concordant reduced enzymatic activity in fibroblasts, indicating late onset Pompe disease. Subsequently performed magnetic resonance imaging revealed a pattern of involvement typical for LOPD, but histological workup from the vastus lateralis muscle was more indicative of an immune-mediated myopathy. After treatment for dermatomyositis and Pompe disease the patient showed an improvement in skin changes and a halt in muscular weakness. In conclusion, both entities could be seen in the patient. However, early and prolonged subclinical hyper-CK-emia hinted at Pompe disease as the primary entity.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Case Report ; Dermatomyositis ; Inflammatory Myopathy ; Late Onset Pompe Disease; Acid Maltase Deficiency; 6-minute Walk; Adult; Dystrophy; Juvenile; College
ISSN (print) / ISBN
2214-3599
e-ISSN
2214-3602
Zeitschrift
Journal of neuromuscular diseases
Verlag
IOS Press
Verlagsort
Amsterdam
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)