Janssen, 2000: Overview of all reported DYT/PARK-TH patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
9
|
n.a.
|
Oculogyric crisis
Myoclonus Intellectual developmental disorder Cognitive impairment Upper limb dystonia Dystonia, segmental/multifocal Tremor (any or unspecified) Dystonia (any or unspecified) Lower limb dystonia Dystonia, limb Delayed motor development Dystonia/Parkinsonism Parkinsonism Hypotonia Gait difficulties Bradykinesia Hyperreflexia Rigidity Developmental delay Autonomic sign/sympt. Show more (+17) |
Hypotonia
Bradykinesia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
n.a.
|
Diurnal fluctuations
Dystonia, segmental/multifocal Dystonia, limb Developmental delay Intellectual developmental disorder Dystonia/Parkinsonism Autonomic sign/sympt. Upper limb dystonia Dystonia (any or unspecified) Delayed motor development Oculogyric crisis Lower limb dystonia Tremor (any or unspecified) Hypotonia Rigidity Bradykinesia Residual motor signs Dyskinesia Parkinsonism Hyperreflexia Short stature Dystonia, cervical Decreased body weight Cognitive impairment Gait difficulties Show more (+22) |
Oculogyric crisis
Dystonia, cervical |