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