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