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. 2016 Nov:150:84-88.
doi: 10.1016/j.clineuro.2016.08.020. Epub 2016 Aug 29.

Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study

Francesco Bombelli  1 , Ludovico Lispi  1 , Sandro Costanzi Porrini  2 , Manlio Giacanelli  1 , Chiara Terracciano  3 , Roberto Massa  3 , Antonio Petrucci  4
Affiliations

Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study

Francesco Bombelli et al. Clin Neurol Neurosurg. 2016 Nov.

Abstract

Objectives: Weakness and fatigue are frequent symptoms in myotonic dystrophy type 1 (DM1), mainly as a result of muscle impairment. However, neuromuscular junction (NMJ) abnormalities could play an additional role in determining these manifestations. We aimed to document the possible NMJ involvement in DM1.

Patients and methods: In order to substantiate this hypothesis we performed low rate repetitive nerve stimulation (RNS) and single fiber electromyography (SFEMG), in 14 DM1 subjects.

Results: RNS resulted abnormal in four patients while SFEMG revealed a pathological jitter in ten. A significative correlation was found between jitter values and decrementing response (p<0.000311; r=0.822).

Conclusion: These results suggest a possible involvement of NMJ in DM1.

Keywords: Fatigue; Myotonic dystrophy type 1; Neuromuscular transmission abnormalities; Repetitive nerve stimulation; Single fiber electromyography; Weakness.

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