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