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