Updated Abstract for Study Publication

Background

Hypnic jerks are generally viewed as benign, transient motor events at sleep onset. In rare cases, however, they evolve into chronic, disruptive episodes that resist treatment and severely impair sleep. These persistent forms are often overlooked due to their similarity to benign analogs, limited clinical awareness, and lack of formal classification. We introduce Sleep-Onset Oscillatory Vasomotor Myoclonus (SOVM), a proposed condition characterized by pathologic hypnic jerks accompanied by neurovascular and autonomic dysregulation.

Methods

We conducted the first systematic case series of 5 individuals with SOVM. Clinical data included longitudinal histories, neuroimaging, autonomic and vascular assessments, and treatment responses. Genetic analysis comprised 41 whole-genome and 3 whole-exome sequences, evaluated for recurrent variants and pathway-level enrichment using [insert sequencing pipeline/tool].

Results

All patients exhibited persistent hypnic jerks with overlapping features of autonomic dysregulation, blunted baroreflex adaptation, and impaired vasomotor regulation of cerebrovascular tone. Objective findings included [insert highlights once collated: e.g., CSF flow restriction, delayed sympathetic vasoconstriction]. Aggregated sequencing results revealed recurrent variants across [placeholder gene groups: e.g., calcium channel, sodium channel, vascular tone regulators], with enrichment in ion channel, neurovascular, and oscillatory regulation pathways. These findings parallel animal model data, suggesting that impaired vascular–neuronal coupling at sleep onset contributes to excitatory instability.

Conclusions

This case series represents the first clinical identification and genetic exploration of Sleep-Onset Oscillatory Vasomotor Myoclonus (SOVM), reframing chronic hypnic jerks as a neurovascular channelopathy at the sleep–wake transition. Recognition of SOVM as a distinct condition may reduce misdiagnosis, highlight the need for optimized diagnostic parameters, and open new therapeutic avenues at the intersection of autonomic physiology, cerebrovascular regulation, and sleep initiation and maintenance, given the proposed oscillatory instability during transitions across sleep stages.

Keywords: Hypnic jerks; Sleep starts; Sleep myoclonus; Excessive fragmentary myoclonus (EFM); DNA sequencing; Neurovascular coupling; Autonomic dysfunction; Sleep-stage oscillations; Ion channelopathy; Cerebrospinal fluid circulation.

Note: Sleep-Onset Vasomotor Myoclonus new framework emphasizes:

·   Oscillatory mis-timing of vascular tone at sleep onset.

·   Interplay between neurovascular control (RAAS, ANS, CSF dynamics) and hormonal/ion-channel regulation.

·   A shift from focusing on absolute values to dynamic regulation and connectivity — i.e., how systems (RAAS, vascular tone, sleep oscillators, hormones) coordinate or fail to coordinate.