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