| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
PAK
|
14
|
20
|
No
|
Mri brain other abnormalities
Dysarthria Hyperreflexia Parkinsonism Dystonia, hand Bradykinesia Dystonia, craniofacial Myoclonus Dystonia, oromandibular Hypointensity on basal ganglia and or nigra Gait disturbance Dystonia, jaw Cerebellar atrophy Dystonia, generalized Seizures Dystonia (any or unspecified) Dystonia, foot Abnormal central motor function Pyramidal sign Hypomimic face Dystonia, limb Show more (+18) |
n.a.
|