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Familial hemifacial spasm

F Micheli1, M C Scorticati, E Gatto

  • 1Neurology Department, Hospital de Clinicas Jose de San Martin, Buenos Aires, Argentina.

Movement Disorders : Official Journal of the Movement Disorder Society
|May 1, 1994
PubMed
Summary
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This study details a unique family with late-onset hemifacial spasms affecting two brothers on opposite sides of the face. Imaging revealed no abnormalities, suggesting a distinct genetic pattern for this rare familial condition.

Area of Science:

  • Neurology
  • Genetics

Background:

  • Hemifacial spasm (HFS) is a neuromuscular disorder characterized by involuntary contractions of facial muscles.
  • Familial cases of HFS are rare, with limited understanding of their genetic underpinnings.

Observation:

  • Two brothers presented with late-onset hemifacial spasm (HFS) at ages 63 and 70.
  • Spasms affected different sides of the face (left and right, respectively).
  • A third sibling had a history of peripheral facial palsy that resolved spontaneously.

Findings:

  • Neuroimaging (CT and MRI) did not reveal any structural abnormalities in the affected brothers.
  • This represents the fourth reported family with a history of familial hemifacial spasms.
  • The family's presentation is unique due to contralateral HFS in siblings and single-generation involvement.

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Implications:

  • The late onset and contralateral presentation suggest a unique genetic etiology for HFS in this family.
  • Further research into the genetic factors of HFS may elucidate mechanisms in both familial and sporadic cases.
  • Understanding familial HFS patterns can aid in differential diagnosis and genetic counseling.