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