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