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