Table 1.
Clinical diagnoses and demographics
| Gender | |||||
|---|---|---|---|---|---|
| Clinical diagnosis | Number (age of onset)1 | Family history2 | Male | Female | Number of subjects with c.71+9C>A |
| Laryngeal dystonia | 472 (45.4 ± 15.7, 7–85) | 8.3% | 110 | 362 | 3 |
| Cervical dystonia | 509 (44.6 ± 13.6, 4–76) | 10.0% | 118 | 391 | 3 |
| Blepharospasm | 198 (58.1 ± 9.4, 20–73) | 10.1% | 61 | 137 | 2 |
| Hand–forearm dystonia | 52 (34.9 ± 13.0, 7–60) | 9.6% | 23 | 29 | 0 |
| Oromandibular dystonia | 18 (52.5 ± 12.3, 20–70) | 11.1% | 4 | 14 | 1 |
| Other primary focal dystonia | 38 (43.3 ± 18.1, 10–74) | 13.2% | 15 | 23 | 0 |
| Segmental dystonia | 143 (48.0 ± 12.2, 12–74) | 12.6% | 47 | 96 | 0 |
| Multifocal dystonia | 24 (33.3 ± 16.1, 7–67) | 20.8% | 8 | 16 | 0 |
| Generalized dystonia | 26 (23.3 ± 17.8, 1–57) | 15.4% | 12 | 14 | 0 |
| Classified dystonias | 1480 | 398 | 1082 | 9 (P = 0.0095)3 | |
| Unclassified dystonias4 | 192 | NA | NA | NA | 3 |
| Dystonia total | 1672 | 12 (P = 0.0035)3 | |||
| Neurologically normal controls | 1574 (61.2 ± 14.4, 23–95) | NA | 688 | 886 | 1 |
NA, not available or applicable.
1
Mean age at study enrollment ± standard error, range (years).
2
First- or second-degree relative with dystonia.
3
Fisher's exact test for case–control analysis.
4
Subjects with unclassified dystonia were obtained from Athena Diagnostics.