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