| 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, generalized
Dystonia, axial Dystonia, hand Dystonia, limb Dystonia, arm Dystonia, task-specific Short stature Lower limb dystonia Dystonia (any or unspecified) Dystonia, foot Sleep benefit Motor delay Dystonia, leg Upper limb dystonia Show more (+11) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
56
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, segmental/multifocal Dystonia, craniofacial Dystonia, upper face Dystonia, limb Dysarthria Dystonia, foot Lower limb dystonia Dystonia, cervical Dystonia, lower face Dystonia, leg Torticollis Show more (+9) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
43
|
n.a.
|
Lower limb dystonia
Retrocollis Dystonia, lower face Dystonia (any or unspecified) Dystonia, limb Dystonia, cervical Dystonia, axial Upper limb dystonia Dystonia, foot Dystonia, craniofacial Dystonia, upper face Dystonia, arm Dystonia, hand Dystonia, generalized Diurnal fluctuations Show more (+12) |
n.a.
|