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.
|
Cognitive impairment
Delayed motor development Intellectual developmental disorder Postural instability Dyskinesia Hypotonia Dystonia, axial Lower limb dystonia Dystonia (any or unspecified) Dystonia, generalized Dystonia, limb Developmental delay Residual motor signs Upper limb dystonia Show more (+11) |
Hypotonia
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
n.a.
|
Lower limb dystonia
Intellectual developmental disorder Diurnal fluctuations Postural instability Developmental delay Dystonia, limb Dystonia (any or unspecified) Gait difficulties Delayed motor development Show more (+6) |
Gait difficulties
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
n.a.
|
n.a.
|
Dyskinesia
Upper limb dystonia Cognitive impairment Intellectual developmental disorder Diurnal fluctuations Lower limb dystonia Delayed motor development Dystonia, generalized Hypotonia Dystonia/Parkinsonism Dystonia (any or unspecified) Dystonia, limb Rigidity Oculogyric crisis Parkinsonism Postural instability Gait difficulties Tremor (any or unspecified) Dystonia, axial Developmental delay Show more (+17) |
Hypotonia
Oculogyric crisis |
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
n.a.
|
Dyskinesia
Parkinsonism Developmental delay Residual motor signs Diurnal fluctuations Lower limb dystonia Delayed motor development Tremor (any or unspecified) Dystonia/Parkinsonism Hypotonia Postural instability Intellectual developmental disorder Dystonia (any or unspecified) Dystonia, axial Upper limb dystonia Cognitive impairment Dystonia, generalized Dystonia, limb Show more (+15) |
Tremor (any or unspecified)
Hypotonia |