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