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