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