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, laryngeal
Dysphonia Dystonia, generalized Dystonia, foot Dystonia, craniofacial Dystonia, tongue Dystonia (any or unspecified) Dystonia, lower face Dystonia, jaw Dystonia, hand Dystonia, limb Dystonia, oromandibular Dystonia, leg Dystonia, axial Dystonia, arm Dystonia, cervical Show more (+13) |
n.a.
|
|
Yes
|
♀
|
C
|
POL
|
47
|
50
|
Yes
|
Dystonia, cervical
Dystonia, focal Tremor, head Tremor (any or unspecified) Dystonia (any or unspecified) Retrocollis Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
POL
|
41
|
43
|
Yes
|
Tremor, head
Dystonic tremor Dystonia (any or unspecified) Tremor (any or unspecified) Show more (+1) |
n.a.
|