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