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
|
Dysphonia
Dystonia, hand Dystonia, craniofacial Dystonia, lower face Torticollis Dystonia, oromandibular Dystonia, limb Dystonia,task-specific Dystonia, jaw Alcohol responsiveness Sleep benefit Dystonia, leg Dystonia, tongue Dystonia (any or unspecified) Dysarthria Dystonia, axial Dystonia, generalized Dystonia, foot Dystonia, laryngeal Dystonia, arm Dystonia, cervical Show more (+18) |
Dystonia, hand
|
|
Yes
|
♂
|
C
|
DEU
|
10
|
68
|
Yes
|
Dystonia (any or unspecified)
Tremor, action Dystonia, arm Torticollis Dystonia, leg Dystonia, limb Tremor, head Dysphonia Dystonia, laryngeal Postural tremor Tremor (any or unspecified) Dystonia,task-specific Dystonia, hand Dystonia, segmental/multifocal Dystonia, craniofacial Dystonia, cervical Dystonia, foot Dystonic tremor Dystonia, oromandibular Tremor, limb Show more (+17) |
Dystonia, hand
|
|
No
|
♀
|
C
|
DEU
|
n.a.
|
40
|
Yes
|
Dystonia, limb
Dystonic tremor Dystonia,task-specific Tremor, limb Dystonia, arm Dystonia (any or unspecified) Dystonia, segmental/multifocal Tremor (any or unspecified) Dystonia, cervical Torticollis Postural tremor Tremor, action Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DEU
|
n.a.
|
70
|
Yes
|
Postural tremor
Dystonia, arm Dystonia, limb Dystonia (any or unspecified) Dystonic tremor Tremor (any or unspecified) Dystonia, cervical Tremor, limb Dystonia, segmental/multifocal Show more (+6) |
n.a.
|