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