Key result
Dysferlinopathy carries a ~58% initial misdiagnosis rate, often confused with inflammatory myopathy.
Why the study?
Dysferlinopathy shows heterogeneous clinical phenotypes and genetic characteristics.
Observational (n=26)
No
Dysferlinopathy in Chinese patients presents with heterogeneous phenotypes and a high rate of initial misdiagnosis, with 15 novel variants identified.
Frequent misdiagnosis as inflammatory myopathy in Chinese dysferlinopathy warrants genetic testing caution; extends DYSF variant spectrum but leaves generalizability open.
BACKGROUND: Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics. METHODS: We reviewed the clinical and pathological data as well as the molecular characteristics of 26 Chinese patients with dysferlinopathy screened by immunohistochemistry staining and pathogenic variants in DYSF genes. RESULTS: Among 26 patients with dysferlinopathy, 18 patients (69.2%) presented as Limb-girdle Muscular Dystrophy Type R2 (LGMD R2), 4 (15.4%) had a phenotype of Miyoshi myopathy (MM), and 4 (15.4%) presented as asymptomatic hyperCKemia. Fifteen patients (57.7%) were originally misdiagnosed as inflammatory myopathy or other diseases. Fifteen novel variants were identified among the 40 variant sites identified in this cohort. CONCLUSION: Dysferlinopathy is a clinically and genetically heterogeneous group of disorders with various phenotypes, a high proportion of novel variants, and a high rate of misdiagnosis before immunohistochemistry staining and genetic analysis.
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Wang et al. (2022) conducted an observational in Dysferlinopathy (n=26). DYSF pathogenic variants was evaluated on Clinical phenotypes, misdiagnosis rate, and genetic variants. Among 26 Chinese patients with dysferlinopathy, 69.2% presented with LGMD R2, 57.7% were initially misdiagnosed (often as inflammatory myopathy), and 15 novel DYSF variants were identified.
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