| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
9
|
n.a.
|
Developmental delay
Dystonia, segmental/multifocal Upper limb dystonia Dystonia/Parkinsonism Rigidity Dystonia, limb Tremor (any or unspecified) Oculogyric crisis Bradykinesia Gait difficulties Cognitive impairment Myoclonus Intellectual developmental disorder Lower limb dystonia Parkinsonism Autonomic sign/sympt. Hyperreflexia Hypotonia Delayed motor development Dystonia (any or unspecified) Show more (+17) |
Bradykinesia
Hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
n.a.
|
Dystonia (any or unspecified)
Developmental delay Parkinsonism Dyskinesia Hypotonia Oculogyric crisis Upper limb dystonia Diurnal fluctuations Decreased body weight Delayed motor development Autonomic sign/sympt. Dystonia, segmental/multifocal Hyperreflexia Lower limb dystonia Short stature Gait difficulties Tremor (any or unspecified) Dystonia/Parkinsonism Cognitive impairment Dystonia, limb Bradykinesia Intellectual developmental disorder Residual motor signs Dystonia, cervical Rigidity Show more (+22) |
Oculogyric crisis
Dystonia, cervical |