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