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