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