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.
|
Hyperreflexia
Dystonia, limb Rigidity Parkinsonism Tremor (any or unspecified) Oculogyric crisis Delayed motor development Dystonia (any or unspecified) Intellectual developmental disorder Dystonia/Parkinsonism Dystonia, segmental/multifocal Hypotonia Autonomic sign/sympt. Myoclonus Developmental delay Upper limb dystonia Lower limb dystonia Bradykinesia Cognitive impairment Gait difficulties Show more (+17) |
Hypotonia
Bradykinesia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
n.a.
|
Residual motor signs
Intellectual developmental disorder Bradykinesia Dyskinesia Dystonia (any or unspecified) Hypotonia Developmental delay Oculogyric crisis Delayed motor development Cognitive impairment Dystonia, segmental/multifocal Diurnal fluctuations Short stature Upper limb dystonia Dystonia, limb Tremor (any or unspecified) Decreased body weight Autonomic sign/sympt. Parkinsonism Dystonia/Parkinsonism Gait difficulties Hyperreflexia Rigidity Lower limb dystonia Dystonia, cervical Show more (+22) |
Oculogyric crisis
Dystonia, cervical |