AlSubhi, 2017: 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
n.a.
SAU
1
n.a.
No
Sleep benefit
Intellectual developmental disorder
Hypotonia
Dystonia (any or unspecified)
Delayed motor development
Cognitive impairment
Developmental delay
Spasticity
Show more (+5)
n.a.
No
n.a.
SAU
0
n.a.
n.a.
Dystonia (any or unspecified)
Developmental delay
Intellectual developmental disorder
Delayed motor development
Cognitive impairment
Oculogyric crisis
Diurnal fluctuations
Sleep benefit
Hypotonia
Spasticity
Show more (+7)
n.a.
No
n.a.
SAU
0
n.a.
n.a.
Dystonia (any or unspecified)
Sleep benefit
Developmental delay
Hypotonia
Oculogyric crisis
Delayed motor development
Diurnal fluctuations
Cognitive impairment
Intellectual developmental disorder
Spasticity
Show more (+7)
n.a.
Yes
n.a.
SAU
0
2
n.a.
Cognitive impairment
Sleep benefit
Intellectual developmental disorder
Developmental delay
Rigidity
Hypotonia
Diurnal fluctuations
Oculogyric crisis
Dystonia (any or unspecified)
Delayed motor development
Show more (+7)
n.a.
No
n.a.
SAU
1
n.a.
n.a.
Spasticity
Sleep benefit
Hypotonia
Dystonia (any or unspecified)
Cognitive impairment
Intellectual developmental disorder
Delayed motor development
Developmental delay
Show more (+5)
n.a.
p.Met1?: hom
Yes
n.a.
SAU
1
n.a.
No
Delayed motor development
Developmental delay
Dystonia (any or unspecified)
Sleep benefit
Cognitive impairment
Spasticity
Intellectual developmental disorder
Hypotonia
Show more (+5)
n.a.
Yes
n.a.
SAU
0
2
n.a.
Dystonia (any or unspecified)
Delayed motor development
Hypotonia
Sleep benefit
Rigidity
Oculogyric crisis
Cognitive impairment
Developmental delay
Diurnal fluctuations
Intellectual developmental disorder
Show more (+7)
n.a.
Yes
n.a.
SAU
1
n.a.
n.a.
Dystonia (any or unspecified)
Spasticity
Intellectual developmental disorder
Developmental delay
Delayed motor development
Cognitive impairment
Hypotonia
Sleep benefit
Show more (+5)
n.a.
p.Met1?: hom
No
n.a.
SAU
1
n.a.
n.a.
Intellectual developmental disorder
Spasticity
Dystonia (any or unspecified)
Sleep benefit
Developmental delay
Delayed motor development
Hypotonia
Cognitive impairment
Show more (+5)
n.a.
p.Met1?: hom
Yes
n.a.
SAU
1
n.a.
n.a.
Intellectual developmental disorder
Cognitive impairment
Delayed motor development
Sleep benefit
Dystonia (any or unspecified)
Spasticity
Hypotonia
Developmental delay
Show more (+5)
n.a.
p.Met1?: hom