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