Functional and Idiopathic Cervical Dystonia in Two Family Members: A Challenging Diagnosis

Tremor Other Hyperkinet Mov (N Y). 2020 Dec 11:10:51. doi: 10.5334/tohm.558.


Background: Cervical dystonia (CD) often occurs in the same family.

Case report: A 40-year-old woman presented with a longstanding history of CD and signs of inconsistency at history taking and neurological examination; her 65-year-old mother was diagnosed instead with idiopathic CD, which had begun 7 years after the onset of CD in her daughter.

Discussion: Idiopathic and functional CD share common clinical and endophenotypic traits, making the differential diagnosis particularly challenging. A complete examination is warranted.

Keywords: cervical dystonia; endophenotypic trait; familial dystonia; functional movement disorder.

Publication types

  • Case Reports
  • Video-Audio Media

MeSH terms

  • Adult
  • Aged
  • Botulinum Toxins, Type A / therapeutic use
  • Cholinergic Antagonists / therapeutic use
  • Family
  • Female
  • Humans
  • Mothers
  • Neuromuscular Agents / therapeutic use
  • Physical Therapy Modalities
  • Psychiatric Rehabilitation
  • Somatoform Disorders / diagnosis*
  • Somatoform Disorders / physiopathology
  • Somatoform Disorders / therapy
  • Torticollis / diagnosis*
  • Torticollis / physiopathology
  • Torticollis / therapy
  • Treatment Failure
  • Treatment Outcome


  • Cholinergic Antagonists
  • Neuromuscular Agents
  • Botulinum Toxins, Type A