| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
28
|
n.a.
|
Dystonia, leg
Dystonia, hand Short stature Dystonia, task-specific Dystonia, axial Dystonia, foot Lower limb dystonia Upper limb dystonia Dystonia, generalized Sleep benefit Dystonia (any or unspecified) Motor delay Dystonia, limb Dystonia, arm Show more (+11) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
56
|
n.a.
|
Dystonia, limb
Torticollis Dysarthria Dystonia, segmental/multifocal Dystonia, lower face Dystonia, upper face Lower limb dystonia Dystonia (any or unspecified) Dystonia, cervical Dystonia, foot Dystonia, leg Dystonia, craniofacial Show more (+9) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
43
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, foot Dystonia, axial Dystonia, upper face Dystonia, arm Dystonia, hand Dystonia, lower face Retrocollis Upper limb dystonia Dystonia, limb Dystonia, generalized Dystonia, craniofacial Diurnal fluctuations Lower limb dystonia Show more (+12) |
n.a.
|