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.
|
Torticollis
Tremor (any or unspecified) Dystonia, generalized Alcohol responsiveness Dystonia (any or unspecified) Dystonia, foot Tremor, head Dystonia, cervical Dystonic tremor Dystonia, limb Dystonia, axial Dystonia, hand Show more (+9) |
Dystonia, cervical
|
|
Yes
|
♂
|
C
|
TUR
|
2
|
n.a.
|
Yes
|
Anarthria
Hyperreflexia Dystonia, axial Dystonia, laryngeal Dystonia, cervical Motor delay Spasticity Dystonia, leg Global developmental delay Dystonia (any or unspecified) Torticollis Delayed speech and language development Dystonia, generalized Dystonia, limb Dystonia, hand Show more (+12) |
Spasticity
|
|
Yes
|
♀
|
C
|
DEU
|
6
|
20
|
Yes
|
Dystonia, segmental/multifocal
Dystonia, hand Dystonia (any or unspecified) Dystonia, limb Dystonia, arm Show more (+2) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
SRB
|
31
|
68
|
Yes
|
Dystonia, hand
Dystonia, oromandibular Dystonia, limb Torticollis Sleep benefit Tremor, limb Dystonia (any or unspecified) Dystonia, craniofacial Tremor, head Dystonia, task-specific Alcohol responsiveness Dystonia, cervical Tremor (any or unspecified) Dystonia, lower face Dystonic tremor Dystonia, axial Dystonia, generalized Myoclonus Dystonia, leg Tremor, action Show more (+17) |
Dystonia, hand
|
|
No
|
♂
|
C
|
SRB
|
45
|
50
|
Yes
|
Dystonia, task-specific
Torticollis Dystonia, cervical Dystonia, focal Dystonia (any or unspecified) Show more (+2) |
Dystonia, cervical
|
|
Yes
|
♀
|
C
|
DEU
|
8
|
n.a.
|
Yes
|
Dystonia, hand
Dystonia, axial Dystonia, arm Dystonia, generalized Tremor (any or unspecified) Dystonia, laryngeal Dystonia (any or unspecified) Alcohol responsiveness Dystonia, leg Dystonia, limb Show more (+7) |
Dystonia (any or unspecified)
|