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