Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
DEU
|
18
|
21
|
n.a.
|
Dystonia, cervical
Dystonia (any or unspecified) Tremor (any or unspecified) Alcohol responsiveness Torticollis Dystonia, limb Dystonia, hand Dystonia, generalized Tremor, head Dystonia, foot Dystonic tremor Dystonia, axial Show more (+9) |
Dystonia, cervical
|
|
Yes
|
♂
|
C
|
TUR
|
2
|
n.a.
|
Yes
|
Dystonia (any or unspecified)
Hyperreflexia Spasticity Dystonia, laryngeal Torticollis Delayed speech and language development Dystonia, limb Global developmental delay Dystonia, axial Dystonia, generalized Motor delay Dystonia, cervical Dystonia, hand Dystonia, leg Anarthria Show more (+12) |
Spasticity
|
|
Yes
|
♀
|
C
|
DEU
|
6
|
20
|
Yes
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, hand Dystonia, arm Dystonia, segmental/multifocal Show more (+2) |
Dystonia, hand
|
|
Yes
|
♀
|
C
|
SRB
|
31
|
68
|
Yes
|
Dystonia, hand
Dystonia, lower face Tremor, limb Dystonia, oromandibular Dystonia, axial Sleep benefit Alcohol responsiveness Myoclonus Dystonia, generalized Torticollis Dystonia, task-specific Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, cervical Tremor, head Dystonia, leg Dystonia, limb Dystonic tremor Tremor, action Dystonia, craniofacial Show more (+17) |
Dystonia, hand
|
|
No
|
♂
|
C
|
SRB
|
45
|
50
|
Yes
|
Dystonia, task-specific
Dystonia (any or unspecified) Torticollis Dystonia, focal Dystonia, cervical Show more (+2) |
Dystonia, cervical
|
|
Yes
|
♀
|
C
|
DEU
|
8
|
n.a.
|
Yes
|
Dystonia, arm
Dystonia, generalized Dystonia, leg Dystonia (any or unspecified) Dystonia, hand Alcohol responsiveness Dystonia, laryngeal Tremor (any or unspecified) Dystonia, axial Dystonia, limb Show more (+7) |
Dystonia (any or unspecified)
|