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