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