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