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