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