Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ESP
|
0
|
2
|
n.a.
|
Upper limb dystonia
Dysarthria Myoclonus Dystonia, segmental/multifocal Lower limb dystonia Tremor (any or unspecified) Hyperreflexia Developmental delay Hypotonia Gait difficulties Dystonia, limb Residual motor signs Delayed motor development Dystonia (any or unspecified) Sleep benefit Oculogyric crisis Autonomic sign/sympt. Diurnal fluctuations Show more (+15) |
Hypotonia
Dystonia, limb |