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