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Clinical case reports familial hemifacial spasm with demyelination in women, suggesting a hereditary predisposition and anatomical features.
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.
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Zalyalova et al. (2025) studied this question.
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