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