Djarmati, 2009: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
DEU
|
9
|
35
|
No
|
Dystonia, craniofacial
Alcohol responsiveness Dystonia, lower face Dystonia, hand Dystonia, axial Dystonia (any or unspecified) Dysphonia Dystonia, oromandibular Dystonia, generalized Dystonia, leg Torticollis Dystonia, jaw Dystonia, laryngeal Dystonia, arm Dystonia, cervical Dystonia, limb Dystonia,task-specific Sleep benefit Dysarthria Dystonia, tongue Dystonia, foot Show more (+18) |
Dystonia, hand
|
|
Yes
|
♂
|
C
|
DEU
|
10
|
68
|
Yes
|
Dystonia, limb
Dystonia, cervical Dystonia, laryngeal Postural tremor Tremor, limb Tremor, head Torticollis Dystonia, oromandibular Dystonic tremor Dysphonia Tremor, action Dystonia,task-specific Dystonia, hand Tremor (any or unspecified) Dystonia, segmental/multifocal Dystonia, arm Dystonia, leg Dystonia (any or unspecified) Dystonia, foot Dystonia, craniofacial Show more (+17) |
Dystonia, hand
|
|
No
|
♀
|
C
|
DEU
|
n.a.
|
40
|
Yes
|
Torticollis
Tremor, limb Dystonia, cervical Postural tremor Dystonia,task-specific Dystonia, arm Tremor (any or unspecified) Tremor, action Dystonic tremor Dystonia, segmental/multifocal Dystonia, limb Dystonia (any or unspecified) Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
n.a.
|
70
|
Yes
|
Tremor, limb
Tremor (any or unspecified) Dystonic tremor Dystonia, cervical Dystonia (any or unspecified) Dystonia, arm Postural tremor Dystonia, segmental/multifocal Dystonia, limb Show more (+6) |
n.a.
|