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