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