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