A prospective case-control study of excessive fragmentary myoclonus in the upper and lower extremities: Clinical characteristics and electrophysiological correlates

Background: Excessive fragmentary myoclonus (EFM) is an incidental finding in video-polysomnography (VPSG) and listed among "Sleep Related Movement Disorders - Isolated symptoms and normal variants" in the ICSD-3. We aimed to prospectively evaluate EFM in the upper and lower extremities in a large sleep laboratory cohort and to investigate clinical characteristics and peripheral nerve pathology in patients with and without EFM.

Methods: Two-hundred consecutive sleep laboratory patients with EFM according to ICSD-3 criteria were included and matched to 100 patients without EFM for age, sex and presence or absence of sleep-related breathing disorder. Patients additionally underwent peripheral neurophysiological work-up.

Results: In 31/200 (15.5%) patients EFM was present not only in the lower extremities, but also in the upper extremities. Patients with EFM had less REM sleep (%/SPT; median (IQR); 13.8 (9.1-18.2) vs. 17.1 (10.1-20.5); p = 0.008) and the PLMS-Index was higher in patients with EFM than in those without (16.2 vs. 8.8/h; p = 0.009). Polyneuropathy (PNP) and nerve root lesions L5 and S1 were more frequent in patients with than in those without EFM (31.5% vs. 21% and 5% vs. 0%; p = 0.003).

Conclusions: In this large cohort we systematically investigated upper and lower extremities with surface electromyography during sleep and show that EFM is much more frequent in the lower extremities than in the upper extremities and corroborate the association of EFM with peripheral nerve pathology and PLMS.