Table 1.
Demographics and clinical characteristics of the XDP patients.
| # | Age at assessment (yr) | Age at onset (yr) | BFM | MDS-UPDRS Part 3 | Phenotype | Dystonia | Dystonia features | Parkinsonism | Parkinsonism features |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 38 | 35 | 24 | 17 | DP | Y | Cervical, Oromandibular, SD, Tongue, Blepharospasm, Trunk | Y | Hypomimia, Hypophonia, Bradykinesia, Gait |
| 2 | 62 | 34 | 9 | 27 | DP Park | Y | Oromandibular, SD | Y | Hypomimia, Hypophonia, Bradykinesia, Gait, Freezing, Postural instability |
| 3 | 53 | 47 | 43.5 | 48 | DP | Y | Cervical, Oromandibular, SD, Trunk, UE, LE, Gait | Y | Hypomimia, Hypophonia, Bradykinesia, Resting tremor, Gait, Postural instability |
| 4 | 50 | 44 | 7.5 | 42 | DP | Y | Cervical, Oromandibular | Y | Hypomimia, Hypophonia, Bradykinesia, Gait, Freezing, Postural instability |
| 5 | 67 | 55 | 12 | 38 | DP Park | Y | Cervical, Oromandibular, SD | Y | Hypomimia, Hypophonia, Bradykinesia, Gait, Freezing, Postural instability |
| 6 | 62 | 44 | 10.5 | 38 | DP Park | Y | Cervical, SD, Tongue | Y | Hypomimia, Hypophonia, Bradykinesia, Gait, Freezing, Postural instability |
| 7 | 61 | 51 | 0 | 31 | Park only | N | Y | Hypomimia, Hypophonia, Bradykinesia, Gait, Freezing, Postural instability | |
| 8 | 45 | 41 | 12.5 | 13 | DP Dyst | Y | Cervical, Oromandibular, LE | Y | Hypomimia, Hypophonia, Bradykinesia, Gait |
| 9 | 48 | 42 | 23.5 | 15 | DP Dyst | Y | Cervical, Oromandibular, Blepharospasm, LE | Y | Hypomimia, Hypophonia, Bradykinesia, Gait, Postural instability |
| 10 | 54 | 32 | 2 | 17 | DP Park | Y | LE | Y | Hypomimia, Hypophonia, Bradykinesia, Gait |
DP, dystonia parkinsonism; DP Dyst, Dystonia parkinsonism with predominant dystonia; DP Park, Dystonia parkinsonism with predominant parkinsonism; Park only, Parkinsonism as sole phenotype; Dyst only, Dystonia as sole phenotype; SD, Spasmodic dysphonia; UE, Upper extremity; LE, Lower extremity.