| 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
Dystonia (any or unspecified) Delayed motor development Rigidity Hypotonia Upper limb dystonia Diurnal fluctuations Gait difficulties Dystonia/Parkinsonism Dystonia, segmental/multifocal Parkinsonism Dystonia, limb Lower limb dystonia Show more (+10) |
Dystonia (any or unspecified)
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
24
|
n.a.
|
Developmental regression
Dystonia (any or unspecified) Cognitive impairment Dystonia/Parkinsonism Dystonia, limb Parkinsonism Hypotonia Dystonia, generalized Tremor (any or unspecified) Developmental delay Dystonia, axial Intellectual developmental disorder Delayed motor development Lower limb dystonia Depression Resting tremor Gait difficulties Show more (+14) |
Dystonia (any or unspecified)
Hypotonia |
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
7
|
n.a.
|
Dystonia, limb
Hypotonia Delayed motor development Spasticity Tremor (any or unspecified) Upper limb dystonia Sleep benefit Intellectual developmental disorder Developmental delay Postural instability Parkinsonism Diurnal fluctuations Resting tremor Dystonia, segmental/multifocal Myoclonus Lower limb dystonia Cognitive impairment Dystonia (any or unspecified) Rigidity Gait difficulties Dystonia/Parkinsonism Show more (+18) |
Hypotonia
Dystonia (any or unspecified) |