Dudesek, 2001: Overview of all reported DYT/PARK-PTS patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
TUR
|
1
|
20
|
n.a.
|
Myoclonus
Anxiety Developmental delay/intellectual disability Autonomic sign/sympt. Abnormal central motor function Dystonia, segmental/multifocal Dystonia, axial Seizures Muscular hypotonia Dystonia (any or unspecified) Cognitive impairment Intellectual developmental disorder Depression Sleep disorder Global developmental delay Show more (+12) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
5
|
No
|
Seizures
Tremor, intention Developmental delay/intellectual disability Global developmental delay Intellectual developmental disorder Delayed speech and language development Cognitive impairment Abnormal central motor function Tremor (any or unspecified) Motor delay Muscular hypotonia Show more (+8) |
Tremor, intention
Global developmental delay Muscular hypotonia |
|
No
|
♂
|
B
|
TUR
|
0
|
7
|
n.a.
|
Global developmental delay
Rigidity Myoclonus Hyperreflexia Intellectual developmental disorder Anxiety Dystonia, segmental/multifocal Depression Sleep disorder Retrocollis Abnormal central motor function Developmental delay/intellectual disability Dystonia, cervical Dystonia, axial Cognitive impairment Dystonia (any or unspecified) Show more (+13) |
Rigidity
Dystonia (any or unspecified) |
|
Yes
|
♀
|
n.a.
|
TUR
|
1
|
23
|
No
|
Developmental delay/intellectual disability
Motor delay Depression Rigidity Abnormal central motor function Global developmental delay Cognitive impairment Dystonia/Parkinsonism Seizures Delayed speech and language development Muscular hypotonia Parkinsonism Oculogyric crisis Sleep disorder Dyskinesia Dystonia (any or unspecified) Hyperreflexia Intellectual developmental disorder Anxiety Bradykinesia Show more (+17) |
Muscular hypotonia
Parkinsonism |