Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy

This case highlights the diagnostic challenges of LD, particularly in its early stages when clinical and imaging findings may be nonspecific. The report underscores the importance of genetic testing in confirming the diagnosis and tailoring management strategies. Despite limited treatment options, individualized multi-drug regimens may help achieve partial symptom control. Early recognition and comprehensive management, including family counseling, are essential in improving quality of life for patients and their families.