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