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