Zhang, 2017: Overview of all reported DYT/PARK-TH patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
1
|
7
|
n.a.
|
Residual motor signs
Upper limb dystonia Dystonia (any or unspecified) Dystonia, limb Developmental delay Hypotonia Dystonia, axial Dyskinesia Postural instability Delayed motor development Dystonia, generalized Lower limb dystonia Intellectual developmental disorder Cognitive impairment Show more (+11) |
Hypotonia
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
n.a.
|
Lower limb dystonia
Gait difficulties Dystonia, limb Diurnal fluctuations Delayed motor development Postural instability Developmental delay Intellectual developmental disorder Dystonia (any or unspecified) Show more (+6) |
Gait difficulties
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
n.a.
|
n.a.
|
Hypotonia
Dystonia/Parkinsonism Rigidity Parkinsonism Dystonia, generalized Delayed motor development Developmental delay Postural instability Dystonia, axial Dystonia (any or unspecified) Dyskinesia Oculogyric crisis Gait difficulties Cognitive impairment Diurnal fluctuations Dystonia, limb Lower limb dystonia Intellectual developmental disorder Tremor (any or unspecified) Upper limb dystonia Show more (+17) |
Hypotonia
Oculogyric crisis |
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
n.a.
|
Dystonia/Parkinsonism
Dyskinesia Hypotonia Cognitive impairment Dystonia, axial Dystonia, limb Dystonia (any or unspecified) Dystonia, generalized Tremor (any or unspecified) Postural instability Delayed motor development Residual motor signs Lower limb dystonia Parkinsonism Intellectual developmental disorder Diurnal fluctuations Upper limb dystonia Developmental delay Show more (+15) |
Hypotonia
Tremor (any or unspecified) |