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