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.
|
Anxiety
Tremor (any or unspecified) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
14
|
n.a.
|
Dystonia, limb
Dysarthria Lower limb dystonia Dystonia (any or unspecified) Dystonia, focal Dystonia, task-specific Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
11
|
n.a.
|
Dystonia (any or unspecified)
Tremor (any or unspecified) Hypotonia Sleep benefit Dysarthria Diurnal fluctuations Dyskinesia Parkinsonism Rigidity Dystonia, axial Dystonia, focal Dystonia/Parkinsonism Myoclonus Bradykinesia Hyperreflexia Show more (+12) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
2
|
No
|
Developmental delay
Sleep disorder Cognitive impairment Delayed motor development Intellectual developmental disorder Hypotonia Autonomic sign/sympt. Show more (+4) |
Hypotonia
|