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, limb
Tremor, head Dystonia, axial Dystonia, cervical Dystonia, hand Dystonic tremor Torticollis Dystonia (any or unspecified) Dystonia, foot Dystonia, generalized Alcohol responsiveness Tremor (any or unspecified) Show more (+9) |
Dystonia, cervical
|
|
Yes
|
♂
|
C
|
TUR
|
2
|
n.a.
|
Yes
|
Dystonia, generalized
Dystonia, laryngeal Motor delay Dystonia, axial Delayed speech and language development Dystonia, limb Anarthria Dystonia, hand Dystonia, cervical Dystonia, leg Global developmental delay Hyperreflexia Spasticity Torticollis Dystonia (any or unspecified) Show more (+12) |
Spasticity
|
|
Yes
|
♀
|
C
|
DEU
|
6
|
20
|
Yes
|
Dystonia, segmental/multifocal
Dystonia, arm Dystonia, hand Dystonia (any or unspecified) Dystonia, limb Show more (+2) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
SRB
|
31
|
68
|
Yes
|
Torticollis
Dystonia, oromandibular Dystonia, hand Tremor, limb Dystonia, leg Myoclonus Sleep benefit Dystonia, task-specific Dystonia, generalized Dystonia, axial Dystonia, cervical Dystonia, craniofacial Tremor, action Tremor (any or unspecified) Tremor, head Alcohol responsiveness Dystonia, limb Dystonia, lower face Dystonic tremor Dystonia (any or unspecified) 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, limb
Dystonia, arm Dystonia, generalized Tremor (any or unspecified) Alcohol responsiveness Dystonia, leg Dystonia, laryngeal Dystonia, hand Dystonia (any or unspecified) Dystonia, axial Show more (+7) |
Dystonia (any or unspecified)
|