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, lower face
Dystonia, axial Retrocollis Dystonia, cervical Dystonia, generalized Dystonia, oromandibular Tremor (any or unspecified) Torticollis Tremor, limb Dystonia, leg Dysphonia Blepharospasm Geste antagoniste Dystonia, jaw Dystonia, foot Dystonia, tongue Dystonia, limb Dystonia, craniofacial Dystonia, arm Dystonia, laryngeal Dystonia (any or unspecified) Show more (+18) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
24
|
Yes
|
Dystonia, segmental/multifocal
Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, hand Dystonia,task-specific Dystonic tremor Torticollis Dystonia, limb Dystonia, cervical Dystonia, leg Dystonia, foot Dystonia, arm Tremor, limb Show more (+10) |
n.a.
|
|
No
|
♂
|
C
|
POL
|
20
|
20
|
Yes
|
Dystonic tremor
Dystonia (any or unspecified) Tremor, limb Dystonia, arm Tremor, action Dystonia, focal Tremor (any or unspecified) Dystonia, limb Postural tremor Show more (+6) |
Dystonia, arm
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
40
|
47
|
No
|
Dystonic tremor
Dysphonia Dystonia, segmental/multifocal Dystonia, arm Blepharospasm Dystonia, jaw Dystonia, tongue Dystonia, lower face Tremor, limb Dystonia, oromandibular Dystonia, laryngeal Retrocollis Tremor (any or unspecified) Dystonia, craniofacial Dysarthria Dystonia (any or unspecified) Dystonia, limb Dystonia, cervical Show more (+15) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
24
|
No
|
Dystonia, oromandibular
Dystonia, cervical Dystonia, tongue Dystonia, craniofacial Dystonia, arm Dystonia, segmental/multifocal Dystonia, hand Dystonia (any or unspecified) Dystonia, lower face Tremor (any or unspecified) Dysphonia Dystonic tremor Dystonia, limb Tremor, limb Dystonia, laryngeal Dystonia, jaw Show more (+13) |
n.a.
|
|
Yes
|
♂
|
C
|
POL
|
23
|
50
|
Yes
|
Dystonia, limb
Dystonia (any or unspecified) Tremor, action Dystonia, segmental/multifocal Dystonia, arm Tremor, limb Dystonia,task-specific Tremor (any or unspecified) Torticollis Dystonia, hand Dystonia, cervical Dystonia, leg Dystonic tremor Show more (+10) |
Dystonia, arm
Dystonia, hand |
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
26
|
Yes
|
Dystonia, arm
Dystonia, foot Dystonia, limb Dystonia,task-specific Dystonia, hand Dystonia, segmental/multifocal Dystonia (any or unspecified) Dystonia, leg Show more (+5) |
Dystonia, arm
Dystonia, hand |