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