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