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
Lower limb dystonia
Dystonia (any or unspecified)
Dystonia, focal
Dysarthria
Dystonia, task-specific
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n.a.
Yes
n.a.
n.a.
7
11
n.a.
Hyperreflexia
Sleep benefit
Hypotonia
Tremor (any or unspecified)
Dystonia (any or unspecified)
Myoclonus
Bradykinesia
Dystonia/Parkinsonism
Dyskinesia
Dystonia, axial
Rigidity
Diurnal fluctuations
Dysarthria
Dystonia, focal
Parkinsonism
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n.a.
Yes
n.a.
n.a.
n.a.
2
No
Cognitive impairment
Developmental delay
Delayed motor development
Intellectual developmental disorder
Sleep disorder
Hypotonia
Autonomic sign/sympt.
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Hypotonia
p. Lys251*: hom