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