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