| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
44
|
n.a.
|
Dystonia, limb
Dystonia, leg Cognitive impairment Intellectual developmental disorder Diurnal fluctuations Abnormal central motor function Rigidity Motor fluctuations Gait difficulties Tremor, limb Sleep benefit Dystonia, foot Dystonia, hand Sleep disorder Blepharospasm Tremor (any or unspecified) Hyperreflexia Delayed gross motor development Dystonia, craniofacial Dystonia, oromandibular Global developmental delay Dystonia, upper face Motor delay Dystonia, arm Dystonia (any or unspecified) Dystonia, axial Dystonia, jaw Seizures Lower limb dystonia Delayed fine motor development Dyskinesia Hand tremor Upper limb dystonia Delayed speech and language development Dystonia, generalized Dystonia, lower face Show more (+33) |
Seizures
|