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