Jurek, 2014: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
POL
|
4
|
n.a.
|
Yes
|
Dystonia, generalized
Dystonia, oromandibular Dystonia, jaw Dystonia, leg Dystonia, arm Dystonia, craniofacial Dystonia, lower face Dystonia, cervical Dystonia, limb Dystonia (any or unspecified) Dystonia, hand Dystonia, axial Dystonia, foot Dystonia, tongue Dystonia, laryngeal Dysphonia Show more (+13) |
n.a.
|
|
Yes
|
♀
|
C
|
POL
|
47
|
50
|
Yes
|
Retrocollis
Tremor (any or unspecified) Dystonia, cervical Tremor, head Dystonia (any or unspecified) Dystonia, focal Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
POL
|
41
|
43
|
Yes
|
Tremor (any or unspecified)
Tremor, head Dystonia (any or unspecified) Dystonic tremor Show more (+1) |
n.a.
|