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From Mitochondrial Myopathy to SLC18A3-Related Congenital Presynaptic Myasthenic Syndrome: A Case Report
Anke Geertje Boxum1,2, Dennis Klaas Bos3, Gea Drost1,2,4
1Department of Neurology, University Medical Center Groningen (UMCG), University of Groningen, Groningen, The Netherlands.
Introduction:
Recognizing congenital myasthenic syndromes is essential, as appropriate medication can improve muscle weakness.
Case Presentation:
We report on a 25-year-old male who was diagnosed with a mitochondrial myopathy based on muscle biopsy in childhood, although genetic testing of the mitochondrial DNA did not show abnormalities. New analysis, including a gene panel, revealed two novel variants in the SLC18A3 gene, and characteristic electromyography findings changed his diagnosis to a congenital myasthenic syndrome. Treatment was started, which significantly improved his quality of life.
Conclusion:
Our report underscores the importance of re-evaluating diagnoses in patients without genetic confirmation, so that treatable conditions are not overlooked.
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