| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
28
|
n.a.
|
Lower limb dystonia
Dystonia, limb Dystonia, segmental/multifocal Dystonia, foot Dystonia (any or unspecified) Spasticity Hyperreflexia Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
17
|
n.a.
|
Dystonia (any or unspecified)
Hyperreflexia Lower limb dystonia Dyskinesia Anarthria Motor delay Dystonia, leg Dystonia, generalized Dysarthria Dystonia, limb Dystonia, axial Global developmental delay Show more (+9) |
Motor delay
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
54
|
n.a.
|
Spasticity
Dystonia, limb Dystonia, foot Lower limb dystonia Dystonia (any or unspecified) Hyperreflexia Dystonia, focal Show more (+4) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Dystonia, leg
Dystonia, generalized Dyskinesia Delayed speech and language development Anarthria Hyperreflexia Dystonia, limb Muscular hypotonia Motor delay Dystonia (any or unspecified) Lower limb dystonia Dystonia, axial Show more (+9) |
Motor delay
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
84
|
n.a.
|
Tremor (any or unspecified)
Hand tremor Rigidity Dystonia (any or unspecified) Tremor, limb Dystonia, focal Dystonia, limb Dystonia, foot Lower limb dystonia Show more (+6) |
n.a.
|