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