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Search Results for C9ORF72 mutation
Abstract Number: 740
AMYOTROPHIC LATERAL SCLEROSIS – FRONTOTEMPORAL DEMENTIA COMPLEX IN C9ORF72 MUTATION
SHM Converge 2024
Case Presentation: A 33-year-old male with alcohol use disorder presented with progressive bilateral proximal arm weakness and muscle twitching for months. MRI of his brain and cervical spine were unremarkable. Electromyography (EMG) demonstrated mild diffuse fasciculations and changes consistent with denervation, which were attributed to alcohol-related polyneuropathy. The patient planned to abstain from alcohol and [...]
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