Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.
The patient reported here presented with first symptoms at the age of 10 showing an abnormal gait, calf hypertrophy and winged scapulae. She was diagnosed with eosinophilic myositis after muscle biopsy. A second muscle biopsy at the age of 20 and subsequent genetic testing, however, revealed the underlying condition of a primary gamma-sarcoglycanopathy, or LGMD2C. To our knowledge, this is the first LGMD2C patient reported who initially presented with eosinophilic myositis. Eosinophilia has been reported previously in patients with Calpainopathy and Becker Muscular Dystrophy and might be an early, but transient feature of a wider range of muscular dystrophies.
Baumeister
Sarah K
SK
Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Ziemssenstr. 1a, 80336 München, Germany. Sarah.Baumeister@med.uni-muenchen.de
Todorovic
Slobodanka
S
Milić-Rasić
Vedrana
V
Dekomien
Gabriele
G
Lochmüller
Hanns
H
Walter
Maggie C
MC
D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001706:Biopsy; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004802:Eosinophilia / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D009220:Myositis / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D011239:Prednisolone / Q000627:therapeutic use; D049031:Sarcoglycans / Q000172:deficiency* / Q000235:genetics; D055771:Serbia; D055815:Young Adult
D000893:Anti-Inflammatory Agents; D005819:Genetic Markers; D049031:Sarcoglycans; D011239:Prednisolone