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