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
|
Dystonia,task-specific
Dystonia, craniofacial Dystonia, axial Dystonia, limb Tremor, limb Dystonia (any or unspecified) Dystonia, leg Dystonia, lower face Dystonic tremor Tremor, action Dystonia, arm Dystonia, laryngeal Dysphonia Dystonia, cervical Tremor (any or unspecified) Dystonia, tongue Dystonia, generalized Dystonia, foot Dystonia, hand Show more (+16) |
Dystonia, arm
|
|
Yes
|
♂
|
I
|
IND
|
9
|
n.a.
|
No
|
Postural instability
Dystonia, cervical Dystonia, jaw Dystonia, arm Dystonia, limb Tremor (any or unspecified) Torticollis Dystonic tremor Dystonia, craniofacial Resting tremor Dystonia, laryngeal Tremor, action Dystonia, axial Dystonia (any or unspecified) Dystonia, generalized Dysarthria Dystonia, hand Dystonia, foot Dystonia, leg Show more (+16) |
n.a.
|