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