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