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