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