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