Validity of family history data on primary adult-onset dystonia

Arch Neurol. 2004 Oct;61(10):1569-73. doi: 10.1001/archneur.61.10.1569.


Background: To our knowledge, no study has assessed the validity of family history data provided by probands with adult-onset dystonia.

Objective: To measure the sensitivity and specificity of interviewing patients with primary adult-onset dystonia as a method for obtaining information on dystonia in first-degree relatives.

Participants: Seventy probands with primary adult-onset dystonia were asked to identify first-degree relatives who had dystonia. Available relatives were then directly examined by a trained neurologist. The validity of the probands' reports was tested against the neurologists' diagnoses.

Results: Among 300 first-degree relatives who were examined, 26 received a diagnosis of dystonia. Only 7 of the 26 were identified by the probands' reports. Among the 274 relatives free of dystonia, the probands reported 5 as having dystonia. The probands' reports therefore yielded a sensitivity of 27.0% and a specificity of 98.2%.

Conclusions: Because the family history method yields low sensitivity and incurs a risk of misclassification, it is of limited use in family studies of adult-onset dystonia. The only valid means of ascertaining dystonia among relatives remains neurological examination of at-risk subjects.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Chi-Square Distribution
  • Demography
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Family Health*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Neurologic Examination
  • Psychiatric Status Rating Scales
  • Sensitivity and Specificity