J Electrodiagn Neuromuscul Dis.
2024 Aug;26(2):35-39. 10.18214/jend.2024.00017.
Diagnosis of ADSSL1 Mutation-Induced Myopathy Through Electrophysiology and Genetic Tools
- Affiliations
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- 1Department of Rehabilitation Medicine, Konyang University Hospital, Konyang University College of Medicine, Daejeon, Korea
- KMID: 2558760
- DOI: http://doi.org/10.18214/jend.2024.00017
Abstract
- Mutations in the adenylosuccinate synthase 1 (ADSSL1) gene, resulting in adenylosuccinate synthase deficiency, are a rare genetic anomaly characterized by muscular weakness, elevated serum creatine kinase levels, and pathological muscle findings. However, these clinical symptoms are similar to those observed in many other myopathies, increasing the risk of misdiagnosis. In an era of rapidly expanding genetic knowledge, the authors sought to verify the diagnostic utility of electromyography for genetic disorders. Through combined electrophysiological and genetic studies, a patient initially thought to have Becker’s muscular dystrophy was conclusively diagnosed with ADSSL1 mutagenic myopathy. This case underscores the importance of re-evaluating diseases that do not follow the typical clinical progression of traditional myopathies, especially in light of recent diagnostic advancements.
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