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