Almannai, 2019: Overview of all reported DYT/PARK-PTS patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
B
SAU
0
1
No
Short stature
Seizures
Cognitive impairment
Hyperreflexia
Muscular hypotonia
Spasticity
Intellectual developmental disorder
Decreased body weight
Abnormal central motor function
Global developmental delay
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Global developmental delay
p.Val57del: hom
Yes
B
EGY
0
3
No
Cognitive impairment
Spasticity
Delayed speech and language development
Dystonia (any or unspecified)
Global developmental delay
Seizures
Muscular hypotonia
Decreased body weight
Abnormal central motor function
Microcephaly
Short stature
Intellectual developmental disorder
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n.a.
p.Thr67Met: hom
Yes
B
OMN
0
5
No
Global developmental delay
Dystonia (any or unspecified)
Delayed speech and language development
Muscular hypotonia
Cognitive impairment
Seizures
Spasticity
Abnormal central motor function
Hyperreflexia
Intellectual developmental disorder
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n.a.
Yes
B
OMN
0
8
No
Cognitive impairment
Spasticity
Short stature
Dystonia (any or unspecified)
Muscular hypotonia
Hyperreflexia
Autonomic sign/sympt.
Seizures
Decreased body weight
Microcephaly
Intellectual developmental disorder
Global developmental delay
Abnormal central motor function
Oculogyric crisis
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Dystonia (any or unspecified)
Yes
B
SAU
0
13
No
Muscular hypotonia
Intellectual developmental disorder
Delayed speech and language development
Hyperreflexia
Show more (+1)
Muscular hypotonia
p.Met80Val: hom
Yes
B
SAU
0
4
No
Seizures
Short stature
Sleep disorder
Microcephaly
Abnormal central motor function
Dystonia (any or unspecified)
Decreased body weight
Global developmental delay
Intellectual developmental disorder
Cognitive impairment
Hyperreflexia
Muscular hypotonia
Spasticity
Show more (+10)
Seizures
Muscular hypotonia
p.Asn52Ser: hom
Yes
B
SAU
1
5
No
Cognitive impairment
Microcephaly
Seizures
Global developmental delay
Short stature
Autonomic sign/sympt.
Intellectual developmental disorder
Abnormal central motor function
Hyperreflexia
Muscular hypotonia
Spasticity
Decreased body weight
Show more (+9)
Global developmental delay
p.Val57del: hom
Yes
B
SAU
0
1
No
Hyperreflexia
Microcephaly
Decreased body weight
Intellectual developmental disorder
Short stature
Muscular hypotonia
Abnormal central motor function
Cognitive impairment
Global developmental delay
Spasticity
Show more (+7)
Muscular hypotonia
p.Val57del: hom
Yes
B
SAU
1
10
No
Hyperreflexia
Intellectual developmental disorder
Cognitive impairment
Seizures
Global developmental delay
Muscular hypotonia
Abnormal central motor function
Spasticity
Autonomic sign/sympt.
Show more (+6)
Seizures
Muscular hypotonia