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