Pons, 2013: 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
|
♀
|
n.a.
|
n.a.
|
0
|
8
|
n.a.
|
Diurnal fluctuations
Tremor (any or unspecified) Dyskinesia Dystonia/Parkinsonism Developmental delay Sleep benefit Autonomic sign/sympt. Delayed motor development Oculogyric crisis Parkinsonism Hypotonia Dystonia (any or unspecified) Show more (+9) |
n.a.
|
|
Yes
|
♀
|
C
|
GRC
|
0
|
2
|
n.a.
|
Dyskinesia
Dystonia, generalized Dystonia, limb Tremor (any or unspecified) Lower limb dystonia Residual motor signs Developmental regression Delayed motor development Developmental delay Dystonia, axial Dystonia, task-specific Diurnal fluctuations Dystonia/Parkinsonism Autonomic sign/sympt. Dystonia (any or unspecified) Upper limb dystonia Hypotonia Sleep benefit Parkinsonism Oculogyric crisis Show more (+17) |
n.a.
|
|
Yes
|
♀
|
C
|
GRC
|
0
|
0
|
n.a.
|
Upper limb dystonia
Dystonia (any or unspecified) Oculogyric crisis Sleep benefit Autonomic sign/sympt. Lower limb dystonia Developmental delay Hypotonia Developmental regression Dystonia, generalized Dystonia, limb Diurnal fluctuations Parkinsonism Dyskinesia Dystonia, axial Dystonia, task-specific Residual motor signs Tremor (any or unspecified) Delayed motor development Dystonia/Parkinsonism Show more (+17) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
1
|
n.a.
|
Developmental delay
Delayed motor development Dystonia (any or unspecified) Dystonia/Parkinsonism Tremor (any or unspecified) Parkinsonism Autonomic sign/sympt. Dyskinesia Diurnal fluctuations Oculogyric crisis Hypotonia Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
GRC
|
0
|
0
|
n.a.
|
Developmental regression
Tremor (any or unspecified) Dystonia, task-specific Autonomic sign/sympt. Hypotonia Dystonia (any or unspecified) Dyskinesia Oculogyric crisis Delayed motor development Developmental delay Parkinsonism Residual motor signs Dystonia/Parkinsonism Show more (+10) |
n.a.
|