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Davide Martino, MD; Maria S. Aniello, MD; Gianluca Masi, MD; Paolo Lamberti, MD; Valeria Lucchese, MD; Simona Lamberti, MD; Paolo Livrea, MD; Alfredo Berardelli, MD; Giovanni Defazio, MD

Arch Neurol. 2004;61:1569-1573.

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.

Author Affiliations: Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy (Drs Martino, Aniello, Masi, P. Lamberti, Lucchese, S. Lamberti, Livrea, and Defazio), and Department of Neurological Sciences and Mediterranean Neurological Institute (NEUROMED), University of Rome "La Sapienza," Rome, Italy (Dr Berardelli).

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