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