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.
|
Developmental delay/intellectual disability
Dystonia (any or unspecified) Intellectual developmental disorder Myoclonus Depression Dystonia, axial Global developmental delay Autonomic sign/sympt. Muscular hypotonia Sleep disorder Abnormal central motor function Cognitive impairment Anxiety Seizures Dystonia, segmental/multifocal Show more (+12) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
5
|
No
|
Cognitive impairment
Intellectual developmental disorder Developmental delay/intellectual disability Abnormal central motor function Muscular hypotonia Delayed speech and language development Seizures Tremor, intention Global developmental delay Motor delay Tremor (any or unspecified) Show more (+8) |
Muscular hypotonia
Tremor, intention Global developmental delay |
|
No
|
♂
|
B
|
TUR
|
0
|
7
|
n.a.
|
Dystonia, segmental/multifocal
Sleep disorder Cognitive impairment Retrocollis Myoclonus Abnormal central motor function Dystonia, axial Dystonia (any or unspecified) Dystonia, cervical Hyperreflexia Depression Developmental delay/intellectual disability Anxiety Intellectual developmental disorder Rigidity Global developmental delay Show more (+13) |
Dystonia (any or unspecified)
Rigidity |
|
Yes
|
♀
|
n.a.
|
TUR
|
1
|
23
|
No
|
Abnormal central motor function
Motor delay Developmental delay/intellectual disability Dystonia (any or unspecified) Rigidity Parkinsonism Anxiety Depression Muscular hypotonia Dystonia/Parkinsonism Seizures Intellectual developmental disorder Delayed speech and language development Dyskinesia Hyperreflexia Oculogyric crisis Bradykinesia Sleep disorder Cognitive impairment Global developmental delay Show more (+17) |
Parkinsonism
Muscular hypotonia |