Arrabal, 2011: Overview of all reported DYT/PARK-SPR patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
18
|
n.a.
|
Tremor (any or unspecified)
Anxiety |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
14
|
n.a.
|
Dystonia, focal
Lower limb dystonia Dystonia, limb Dystonia, task-specific Dysarthria Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
11
|
n.a.
|
Bradykinesia
Hyperreflexia Dystonia, focal Dystonia/Parkinsonism Dystonia (any or unspecified) Hypotonia Diurnal fluctuations Dysarthria Rigidity Myoclonus Parkinsonism Dystonia, axial Tremor (any or unspecified) Sleep benefit Dyskinesia Show more (+12) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
No
|
Autonomic sign/sympt.
Delayed motor development Developmental delay Sleep disorder Intellectual developmental disorder Hypotonia Cognitive impairment Show more (+4) |
Hypotonia
|