| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
H
|
GTM
|
1
|
3
|
No
|
Dystonia, segmental/multifocal
Delayed motor development Diurnal fluctuations Upper limb dystonia Hypotonia Lower limb dystonia Parkinsonism Dystonia/Parkinsonism Dystonia (any or unspecified) Gait difficulties Rigidity Residual motor signs Dystonia, limb Show more (+10) |
Dystonia (any or unspecified)
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
24
|
n.a.
|
Hypotonia
Resting tremor Gait difficulties Depression Dystonia (any or unspecified) Parkinsonism Developmental delay Dystonia, limb Cognitive impairment Dystonia, generalized Developmental regression Lower limb dystonia Dystonia, axial Tremor (any or unspecified) Delayed motor development Intellectual developmental disorder Dystonia/Parkinsonism Show more (+14) |
Hypotonia
Dystonia (any or unspecified) |
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
7
|
n.a.
|
Developmental delay
Gait difficulties Dystonia (any or unspecified) Intellectual developmental disorder Tremor (any or unspecified) Dystonia, segmental/multifocal Postural instability Upper limb dystonia Resting tremor Spasticity Cognitive impairment Dystonia, limb Lower limb dystonia Rigidity Myoclonus Diurnal fluctuations Dystonia/Parkinsonism Sleep benefit Parkinsonism Hypotonia Delayed motor development Show more (+18) |
Dystonia (any or unspecified)
Hypotonia |