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