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