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