Abstract Details

Title Benign Fasciculation Syndrome as a Manifestation of Small Fiber Neuropathy

Topic Peripheral Nerve

Presentation(s) P01 - (-)

Poster/Presentation
Number 139

Objective

Background BACKGROUND: BFS is characterized by widespread involuntary muscle activity consisting of muscle twitching or fasciculations. The cause is unknown and no anatomical or physiologic lesions have been identified to date.

Design/Methods DESIGN/METHODS: We searched the computerized medical records registry at the Weill Cornell Peripheral Neuropathy Center for patients presenting with fasciculations who underwent skin biopsies for small fiber neuropathy and who, on further evaluation, had no weakness or pathological reflexes, normal EMG and nerve conduction studies without evidence for denervation, and normal blood tests for known causes of neuropathy.

Results RESULTS: Fourteen patients (10 men, 4 women) were identified with an average age=40.7 (range: 29-60) and average symptom duration=2.2 years (range: 1 month-6 years). Thirteen had skin biopsies at the calf and thigh, and one at the foot and thigh. Epidermal nerve fiber density (ENFD) was determined in all 14 patients, and sweat gland nerve fiber density (SGNFD) in 11. In 4 of the 14 patients (36%), the ENFD was significantly decreased in the calf, with a mean value of 4.8 fibers/mm (nl > 5.4), and normal at the thigh, and in 10 the ENFD was normal at both biopsy sites. Six of 11 patients tested (54%), had significantly decreased SGNFD; 2 at both the calf and thigh, 2 at the calf only, 1 at the thigh only, and 1 at the foot. The mean values of the abnormal SGNFD were 25.4 (nl > 37.8) at the thigh, 25.9 (nl >36.5) at the calf, and 26.9 (nl > 34.8) at the foot.

Conclusions CONCLUSIONS: Many patients with BFS exhibit a significant decrease in SGNFD or ENFD, with the SGNFD preferentially affected. Small fiber neuropathy should be investigated as a potential cause or contributing factor to BFS.

Authors/Disclosures
Efstathia Tzatha, MD (Memorial Sloan Kettering Cancer Center) PRESENTER	No disclosure on file
Jennifer A. Langsdorf, MD	Dr. Langsdorf has nothing to disclose.
Bridget T. Carey, MD	No disclosure on file
Russell L. Chin, MD	No disclosure on file
Susan Gauthier, DO (Weill Cornell Medicine)	Dr. Gauthier has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Gauthier has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Gauthier has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Gauthier has received research support from Genentech.

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