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