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