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