Giri, 2017: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
I
|
IND
|
5
|
n.a.
|
No
|
Dysphonia
Tremor, action Dystonia, generalized Dystonia, axial Dystonia,task-specific Dystonia, hand Dystonia, arm Dystonia (any or unspecified) Dystonia, laryngeal Tremor, limb Dystonia, leg Dystonia, limb Tremor (any or unspecified) Dystonia, cervical Dystonia, foot Dystonia, lower face Dystonic tremor Dystonia, tongue Dystonia, craniofacial Show more (+16) |
Dystonia, arm
|
|
Yes
|
♂
|
I
|
IND
|
9
|
n.a.
|
No
|
Dystonia, leg
Tremor, action Dysarthria Dystonia (any or unspecified) Dystonia, limb Dystonia, generalized Postural instability Dystonia, jaw Dystonia, hand Dystonia, laryngeal Tremor (any or unspecified) Resting tremor Dystonia, foot Dystonia, arm Dystonia, craniofacial Dystonic tremor Dystonia, axial Torticollis Dystonia, cervical Show more (+16) |
n.a.
|