Kabakci, 2004: Overview of all reported DYT-TOR1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
DEU
|
18
|
21
|
n.a.
|
Dystonia, generalized
Dystonic tremor Tremor (any or unspecified) Tremor, head Alcohol responsiveness Dystonia, cervical Dystonia, foot Torticollis Dystonia, hand Dystonia, limb Dystonia (any or unspecified) Dystonia, axial Show more (+9) |
Dystonia, cervical
|
|
Yes
|
♂
|
C
|
TUR
|
2
|
n.a.
|
Yes
|
Dystonia, leg
Hyperreflexia Global developmental delay Spasticity Dystonia, laryngeal Dystonia, generalized Motor delay Dystonia, axial Delayed speech and language development Dystonia, cervical Torticollis Anarthria Dystonia, hand Dystonia (any or unspecified) Dystonia, limb Show more (+12) |
Spasticity
|
|
Yes
|
♀
|
C
|
DEU
|
6
|
20
|
Yes
|
Dystonia, arm
Dystonia, segmental/multifocal Dystonia, limb Dystonia, hand Dystonia (any or unspecified) Show more (+2) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
SRB
|
31
|
68
|
Yes
|
Dystonia, craniofacial
Dystonia, axial Dystonia, lower face Dystonia, task-specific Dystonia, generalized Myoclonus Sleep benefit Torticollis Dystonia, cervical Tremor, action Tremor, head Dystonia, limb Dystonia, hand Tremor (any or unspecified) Dystonia, leg Dystonia, oromandibular Tremor, limb Alcohol responsiveness Dystonic tremor Dystonia (any or unspecified) Show more (+17) |
Dystonia, hand
|
|
No
|
♂
|
C
|
SRB
|
45
|
50
|
Yes
|
Dystonia, focal
Torticollis Dystonia (any or unspecified) Dystonia, cervical Dystonia, task-specific Show more (+2) |
Dystonia, cervical
|
|
Yes
|
♀
|
C
|
DEU
|
8
|
n.a.
|
Yes
|
Tremor (any or unspecified)
Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, generalized Dystonia, limb Alcohol responsiveness Dystonia, hand Dystonia, leg Dystonia, axial Dystonia, arm Show more (+7) |
Dystonia (any or unspecified)
|