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