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