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