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