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