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