Abstract Details

Title Atypical Periodic Paralysis Presentations

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 146

Objective N/A

Background

The periodic paralyses are a rare genetically heterogenous group of muscle channelopathies, which result from abnormal ion channel function.

Design/Methods Subjects with a suspected periodic paralysis diagnosis were evaluated through clinical, electrophysiological, and genetic testing.

Results Subjects with pathogenic CLCN1 and SCN4A mutations were found to present with atypical periodic paralysis features including normokalemic paralysis episodes, isolated hand cramps, digestive pain, paralysis episodes lasting for months, burning pain involving the arms, paralysis after headaches, chest pain, throat pain, and prolonged excruciating pain lasting for weeks necessitating multiple emergency room visits. Some of these atypical presentations resulted in a lack of diagnosis for years.

Conclusions Periodic paralyses are rare disorders and more knowledge about these rare disorders are evolving with time. Continued clinical research and updated diagnostic criteria should be obtained to improve diagnosis and treatment in this conditions.

Authors/Disclosures
Nivedita Jerath, MD (Advent Health Orlando) PRESENTER	Dr. Jerath has nothing to disclose.

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Abstract Details