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