LeDoux, 2012: Overview of all reported DYT-THAP1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
44
|
Yes
|
Dystonia, cervical
Geste antagoniste Torticollis Dystonia, generalized Dystonia (any or unspecified) Dystonia, arm Dystonia, oromandibular Dystonia, leg Dystonia, axial Dystonia, limb Dystonia, lower face Dystonia, tongue Tremor (any or unspecified) Dystonia, foot Dysphonia Dystonia, laryngeal Tremor, limb Dystonia, craniofacial Retrocollis Dystonia, jaw Blepharospasm Show more (+18) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
24
|
Yes
|
Dystonia, arm
Tremor (any or unspecified) Dystonia (any or unspecified) Dystonia, cervical Torticollis Dystonic tremor Dystonia,task-specific Dystonia, leg Dystonia, hand Dystonia, foot Dystonia, limb Dystonia, segmental/multifocal Tremor, limb Show more (+10) |
n.a.
|
|
No
|
♂
|
C
|
POL
|
20
|
20
|
Yes
|
Dystonia (any or unspecified)
Dystonic tremor Dystonia, limb Postural tremor Tremor, action Dystonia, arm Tremor, limb Tremor (any or unspecified) Dystonia, focal Show more (+6) |
Dystonia, arm
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
40
|
47
|
No
|
Dystonia, lower face
Dysarthria Tremor (any or unspecified) Dystonia, cervical Dystonia, tongue Dystonia, arm Dystonia (any or unspecified) Dystonic tremor Tremor, limb Dystonia, laryngeal Dystonia, oromandibular Dystonia, segmental/multifocal Dystonia, limb Blepharospasm Dystonia, craniofacial Dysphonia Dystonia, jaw Retrocollis Show more (+15) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
24
|
No
|
Dystonia, cervical
Tremor, limb Dystonia, segmental/multifocal Tremor (any or unspecified) Dystonic tremor Dystonia, hand Dystonia, limb Dystonia, oromandibular Dystonia, craniofacial Dysphonia Dystonia, jaw Dystonia (any or unspecified) Dystonia, lower face Dystonia, tongue Dystonia, laryngeal Dystonia, arm Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
POL
|
23
|
50
|
Yes
|
Dystonia, limb
Tremor, limb Dystonia, leg Dystonia, hand Dystonia, arm Dystonic tremor Dystonia, segmental/multifocal Tremor, action Dystonia, cervical Dystonia,task-specific Tremor (any or unspecified) Dystonia (any or unspecified) Torticollis Show more (+10) |
Dystonia, hand
Dystonia, arm |
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
26
|
Yes
|
Dystonia, segmental/multifocal
Dystonia, foot Dystonia,task-specific Dystonia, leg Dystonia, hand Dystonia, limb Dystonia (any or unspecified) Dystonia, arm Show more (+5) |
Dystonia, hand
Dystonia, arm |