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