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