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