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
|
Oculogyric crisis
Spasticity Cognitive impairment Microcephaly Global developmental delay Autonomic sign/sympt. Seizures Hyperreflexia Intellectual developmental disorder Short stature Muscular hypotonia Abnormal central motor function Dystonia (any or unspecified) Decreased body weight Show more (+11) |
Dystonia (any or unspecified)
|
|
Yes
|
♀
|
B
|
OMN
|
0
|
5
|
No
|
Intellectual developmental disorder
Abnormal central motor function Hyperreflexia Spasticity Seizures Delayed speech and language development Global developmental delay Muscular hypotonia Dystonia (any or unspecified) Cognitive impairment Show more (+7) |
n.a.
|
|
Yes
|
♀
|
B
|
EGY
|
0
|
3
|
No
|
Global developmental delay
Spasticity Delayed speech and language development Dystonia (any or unspecified) Cognitive impairment Abnormal central motor function Muscular hypotonia Microcephaly Short stature Intellectual developmental disorder Seizures Decreased body weight Show more (+9) |
n.a.
|
|
Yes
|
♀
|
B
|
SAU
|
0
|
1
|
No
|
Spasticity
Seizures Hyperreflexia Short stature Intellectual developmental disorder Global developmental delay Muscular hypotonia Decreased body weight Cognitive impairment Abnormal central motor function Show more (+7) |
Global developmental delay
|
|
Yes
|
♂
|
B
|
SAU
|
0
|
4
|
No
|
Short stature
Hyperreflexia Sleep disorder Muscular hypotonia Dystonia (any or unspecified) Global developmental delay Abnormal central motor function Seizures Intellectual developmental disorder Spasticity Microcephaly Decreased body weight Cognitive impairment Show more (+10) |
Muscular hypotonia
Seizures |
|
Yes
|
♀
|
B
|
SAU
|
0
|
13
|
No
|
Intellectual developmental disorder
Muscular hypotonia Hyperreflexia Delayed speech and language development Show more (+1) |
Muscular hypotonia
|
|
Yes
|
♀
|
B
|
SAU
|
0
|
1
|
No
|
Global developmental delay
Muscular hypotonia Spasticity Microcephaly Abnormal central motor function Decreased body weight Short stature Hyperreflexia Cognitive impairment Intellectual developmental disorder Show more (+7) |
Muscular hypotonia
|
|
Yes
|
♀
|
B
|
SAU
|
1
|
5
|
No
|
Short stature
Seizures Decreased body weight Intellectual developmental disorder Spasticity Muscular hypotonia Microcephaly Cognitive impairment Autonomic sign/sympt. Global developmental delay Hyperreflexia Abnormal central motor function Show more (+9) |
Global developmental delay
|
|
Yes
|
♀
|
B
|
SAU
|
1
|
10
|
No
|
Global developmental delay
Seizures Hyperreflexia Autonomic sign/sympt. Muscular hypotonia Intellectual developmental disorder Abnormal central motor function Spasticity Cognitive impairment Show more (+6) |
Seizures
Muscular hypotonia |