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