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