Koht, 2014: Overview of all reported DYT/PARK-SPR patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
LKA
2
17
n.a.
Diurnal fluctuations
Dystonia, segmental/multifocal
Oculogyric crisis
Dystonia (any or unspecified)
Dystonia, cervical
Sleep disorder
Autonomic sign/sympt.
Developmental delay
Hypotonia
Delayed motor development
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Developmental delay
Hypotonia
No
A
LKA
1
9
n.a.
Hypotonia
Dystonia (any or unspecified)
Dystonia, limb
Dyskinesia
Developmental delay
Lower limb dystonia
Diurnal fluctuations
Dystonia, segmental/multifocal
Upper limb dystonia
Delayed motor development
Oculogyric crisis
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Hypotonia
Developmental delay