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