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