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