| 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
Gait disturbance Dystonia, foot Cerebellar atrophy Dysarthria Pyramidal sign Dystonia, jaw Hyperreflexia Parkinsonism Dystonia, craniofacial Dystonia, oromandibular Abnormal central motor function Dystonia, limb Myoclonus Dystonia, generalized Bradykinesia Hypomimic face Dystonia (any or unspecified) Dystonia, hand Seizures Hypointensity on basal ganglia and or nigra Show more (+18) |
n.a.
|