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