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