Yeung, 2011: 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
|
3
|
28
|
No
|
Decreased body weight
Rigidity Dysarthria Diurnal fluctuations Lower limb dystonia Dystonia (any or unspecified) Dystonia, limb Oculogyric crisis Gait difficulties Dystonia, generalized Parkinsonism Hyperreflexia Dystonia/Parkinsonism Dystonia, axial Bradykinesia Show more (+12) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
7
|
41
|
n.a.
|
Short stature
Gait difficulties Hyperreflexia Decreased body weight Parkinsonism Diurnal fluctuations Dystonia, generalized Bradykinesia Dystonia, axial Dystonia (any or unspecified) Delayed motor development Oculogyric crisis Dystonia/Parkinsonism Dysarthria Show more (+11) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
12
|
No
|
Oculogyric crisis
Hypotonia Hyperreflexia Residual motor signs Bradykinesia Dystonia (any or unspecified) Dystonia, axial Cognitive impairment Decreased body weight Intellectual developmental disorder Autonomic sign/sympt. Developmental delay Dystonia, generalized Delayed motor development Show more (+11) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
1
|
7
|
No
|
Dystonia, axial
Delayed motor development Oculogyric crisis Dystonia, generalized Dystonia/Parkinsonism Rigidity Intellectual developmental disorder Residual motor signs Cognitive impairment Developmental delay Bradykinesia Decreased body weight Hyperreflexia Hypotonia Parkinsonism Dystonia (any or unspecified) Motor fluctuations Short stature Show more (+15) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
3
|
18
|
No
|
Bradykinesia
Gait difficulties Parkinsonism Tremor (any or unspecified) Diurnal fluctuations Dysarthria Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
22
|
No
|
Microcephaly
Hyperreflexia Bradykinesia Residual motor signs Motor fluctuations Short stature Parkinsonism Rigidity Hypotonia Dystonia/Parkinsonism Autonomic sign/sympt. Dystonia (any or unspecified) Developmental delay Cognitive impairment Oculogyric crisis Intellectual developmental disorder Dystonia, generalized Decreased body weight Delayed motor development Dystonia, axial Show more (+17) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
2
|
No
|
Hyperreflexia
Bradykinesia Decreased body weight Delayed motor development Developmental delay Residual motor signs Hypotonia Parkinsonism Show more (+5) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
1
|
6
|
No
|
Developmental delay
Hypotonia Hyperreflexia Dystonia, limb Delayed motor development Dystonia, focal Parkinsonism Bradykinesia Oculogyric crisis Residual motor signs Dysarthria Dystonia/Parkinsonism Dystonia (any or unspecified) Cognitive impairment Lower limb dystonia Intellectual developmental disorder Show more (+13) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
14
|
No
|
Cognitive impairment
Hyperreflexia Decreased body weight Intellectual developmental disorder Oculogyric crisis Residual motor signs Hypotonia Dystonia, axial Developmental delay Dystonia, generalized Delayed motor development Dystonia (any or unspecified) Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
7
|
37
|
n.a.
|
Dystonia, limb
Hyperreflexia Bradykinesia Short stature Gait difficulties Dystonia, axial Dystonia, generalized Dystonia (any or unspecified) Lower limb dystonia Diurnal fluctuations Show more (+7) |
n.a.
|