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