| 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.
|
Sleep benefit
Dystonia, oromandibular Upper limb dystonia Hand tremor Intellectual developmental disorder Dystonia, axial Dystonia, generalized Gait difficulties Delayed speech and language development Dystonia, upper face Delayed gross motor development Sleep disorder Tremor, limb Dystonia, foot Dystonia (any or unspecified) Diurnal fluctuations Motor fluctuations Dystonia, arm Dystonia, craniofacial Global developmental delay Seizures Dyskinesia Dystonia, leg Dystonia, lower face Hyperreflexia Tremor (any or unspecified) Dystonia, hand Motor delay Dystonia, limb Abnormal central motor function Delayed fine motor development Cognitive impairment Rigidity Blepharospasm Lower limb dystonia Dystonia, jaw Show more (+33) |
Seizures
|