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