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