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