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