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