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