Phenotypic overlap in familial and sporadic primary adult-onset extracranial dystonia.

We recently demonstrated that familial and sporadic blepharospasms share several phenotypic features (including age of dystonia onset, sex, and tendency to spread) believed to reflect the etiology of a blepharospasm. To investigate whether familial and sporadic forms of primary adult-onset dystonia other than the blepharospasm also share phenotypic features, we studied the families of 98 probands with primary adult-onset dystonia other than blepharospasms using a validated two-step procedure (questionnaire and clinical examination) that yields 95 % sensitivity and 100 % specificity when used to identify dystonia among relatives. The 98 probands provided a population of 402 living first-degree relatives aged 20 years or more, 336 of whom (83 %, 111 parents, 152 siblings, and 73 children) were screened for dystonia. The screening procedure identified 26 affected relatives (five parents, 16 siblings, and five children; 11 men/15 women; age at dystonia onset, 51 ± 11.7 years) from 24/98 families (25 %). No causes of secondary dystonia were found in the relatives who suffered from various forms of dystonia. When familial and sporadic patients were compared, no significant differences emerged in age, education, family size, sex distribution, age at dystonia onset, or tendency to spread. The phenotypic overlap we observed between the study groups suggests that familial and sporadic patients with primary adult-onset dystonia other than blepharospasm probably share a common etiological background.