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