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