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