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