Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Anti-Inflammatory Agents / therapeutic use
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Biopsy
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DNA Mutational Analysis
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Disease Progression
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Eosinophilia / etiology*
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Eosinophilia / pathology
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Eosinophilia / physiopathology
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics
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Genetic Testing
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Genotype
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Humans
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Muscle Weakness / etiology
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Muscle Weakness / pathology
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Muscle Weakness / physiopathology
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Muscle, Skeletal / metabolism*
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Dystrophies, Limb-Girdle / complications*
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Muscular Dystrophies, Limb-Girdle / genetics
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Muscular Dystrophies, Limb-Girdle / physiopathology
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Myositis / etiology*
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Myositis / pathology
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Myositis / physiopathology
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Prednisolone / therapeutic use
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Sarcoglycans / deficiency*
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Sarcoglycans / genetics
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Serbia
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Young Adult
Substances
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Anti-Inflammatory Agents
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Genetic Markers
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Sarcoglycans
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Prednisolone