Winged Scapula and Mild Weakness in a Patient with SYNE2 Mutation-Associated Myopathy

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Journal of Contemporary Medicine
Cilt: 15 Sayı: 4
Winged Scapula and Mild Weakness in a Patient with SYNE2 Mutation-Associated Myopathy

Winged Scapula and Mild Weakness in a Patient with SYNE2 Mutation-Associated Myopathy

Authors : Gül Melisa Bozdoğan, Halit Fidancı, Halil Can Alaydın, Elif Banu Söker, Merve Yoldaş Çelik

Pages : 190-192

Doi:10.16899/jcm.1716320

View : 85 | Download : 67

Publication Date : 2025-07-31

Article Type : Other Papers

Abstract :Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by scapulo-humero-peroneal muscle weakness, joint contractures, and cardiomyopathy. EDMD5 is an uncommon subtype caused by SYNE2 gene mutations. A 49-year-old male presented with lifelong difficulty running and rising from a squat. Examination revealed mild proximal lower limb weakness and bilateral winged scapula with left-sided predominance. Electromyography showed motor unit action potentials of reduced amplitude and short duration. Muscle biopsy indicated fiber atrophy with preserved staining for key muscular proteins. The findings in this case illustrate that clinical severity in EDMD5 may vary among individuals, as shown by the presence of mild weakness and a winged scapula.
Keywords : Emery-Dreifuss musküler distrofi, EDMD5, miyopati, SYNE2 mutasyonu, kanat skapula

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