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The document discusses a case of hereditary gelsolin amyloidosis in a 57-year-old woman and her three sisters, presenting with progressive facial weakness, dysarthria, and dysphagia. Diagnosis was confirmed through genetic testing revealing a pathogenic variant in the GSN gene, with associated symptoms including tongue atrophy and cutis laxa. The condition mimics familial bulbar variant motor neuron disease, highlighting the importance of recognizing specific clinical features for diagnosis.
- Author
- andfcamorim
- Language
- EN