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