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[Familial hemifacial spasm].

Z A Zalyalova1,2, D M Khasanova2,1, A A Rogozhin3,4

  • 1Kazan State Medical University, Kazan, Russia.

Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
|November 20, 2025
PubMed
Summary
This summary is machine-generated.

Familial hemifacial spasm (HFS) occurred in three generations, suggesting a hereditary component. Neurovascular conflict was not always present, indicating other potential causes for this hyperkinetic disorder.

Keywords:
blinking reflexdemyelinationephaptic transmissionfamilial casehemifacial spasmneurovascular conflictposterior cranial fossa

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Area of Science:

  • Neurology
  • Genetics

Background:

  • Hemifacial spasm (HFS) is a hyperkinetic movement disorder.
  • It is often linked to neurovascular conflict (NVC).

Purpose of the Study:

  • To present a clinical case of familial HFS across three generations.
  • To explore potential hereditary predispositions and etiological factors in HFS.

Main Methods:

  • Clinical case presentation of three affected females from successive generations.
  • Magnetic Resonance Imaging (MRI) to assess for neurovascular conflict.
  • Electroneuromyography (ENMG) to evaluate nerve function and reflexes.

Main Results:

  • Onset in patients ranged from 25-28 years, with two cases linked to childbirth.
  • NVC was identified in only one patient via MRI; findings were inconclusive in others.
  • ENMG revealed demyelination in one patient and hyperactivity of the blinking reflex in another, suggesting ephaptic transmission.

Conclusions:

  • Familial HFS suggests a possible hereditary predisposition.
  • Etiology may involve genetic factors and posterior fossa anatomical features.
  • Further research is needed to elucidate the pathogenesis of familial HFS.