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