Work

Familial hemifacial spasm

Year: 2025

Type: article

Abstract: Hemifacial spasm (HFS) is a hyperkinetic disorder predominantly associated with neurovascular conflict (NVC). The article presents a clinical case of familial HFS in three females from successive generations (age of onset 25-28 years). In two patients, the onset was associated with childbirth. MRI revealed an NVC in one patient, while in the other two, it was absent or the findings were inconclusive. ENMG showed signs of demyelination in one patient and hyperactivity of the blinking reflex in another, confirming the role of ephaptic transmission. A possible hereditary predisposition is discussed, including anatomical features of the posterior fossa and genetic factors. Familial cases of HFS require further study to clarify the etiology and pathogenesis.

Source: S S Korsakov Journal of Neurology and Psychiatry

DOI: 10.17116/jnevro202512511265

Authors: Z.A. Zalyalova, D.M. Khasanova, A.A. Rogozhin, A.F. Akhatov, I.A. Khasanov

Institutions: Kazan State Medical University, Kazan Federal University, Consultative and Diagnostic Center

Language: English

Topic: Trigeminal Neuralgia and Treatments

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4416436436