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