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