| 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.
|
Dystonia, limb
Dystonia, segmental/multifocal Dystonia, foot Lower limb dystonia Spasticity Dystonia (any or unspecified) Hyperreflexia Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
17
|
n.a.
|
Anarthria
Dystonia, leg Dysarthria Dystonia, generalized Global developmental delay Lower limb dystonia Hyperreflexia Dyskinesia Motor delay Dystonia (any or unspecified) Dystonia, axial Dystonia, limb Show more (+9) |
Motor delay
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
54
|
n.a.
|
Lower limb dystonia
Spasticity Dystonia, limb Hyperreflexia Dystonia (any or unspecified) Dystonia, foot Dystonia, focal Show more (+4) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Dystonia, axial
Hyperreflexia Dystonia, generalized Dystonia (any or unspecified) Muscular hypotonia Delayed speech and language development Motor delay Dyskinesia Dystonia, leg Anarthria Lower limb dystonia Dystonia, limb Show more (+9) |
Motor delay
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
84
|
n.a.
|
Rigidity
Dystonia, focal Dystonia, limb Tremor (any or unspecified) Dystonia, foot Lower limb dystonia Tremor, limb Dystonia (any or unspecified) Hand tremor Show more (+6) |
n.a.
|