| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
POL
|
0
|
11
|
n.a.
|
Dystonia, axial
Dystonia, limb Muscular hypotonia Dystonia, craniofacial Dystonia (any or unspecified) Lower limb dystonia Hyperreflexia Motor delay Delayed speech and language development Dystonia, generalized Dystonia, leg Global developmental delay Dystonia, lower face Show more (+10) |
Motor delay
|
|
No
|
♀
|
C
|
POL
|
n.a.
|
n.a.
|
n.a.
|
Dystonia, segmental/multifocal
Postural tremor Dystonia (any or unspecified) Lower limb dystonia Tremor (any or unspecified) Hyperreflexia Dystonia, leg Dystonia, limb Hand tremor Show more (+6) |
Dystonia (any or unspecified)
|