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