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