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