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