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