AlSubhi, 2017: Overview of all reported DYT/PARK-SPR patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
No
|
Cognitive impairment
Intellectual developmental disorder Developmental delay Hypotonia Sleep benefit Spasticity Delayed motor development Dystonia (any or unspecified) Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
0
|
n.a.
|
n.a.
|
Diurnal fluctuations
Oculogyric crisis Cognitive impairment Delayed motor development Hypotonia Spasticity Dystonia (any or unspecified) Developmental delay Sleep benefit Intellectual developmental disorder Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
0
|
n.a.
|
n.a.
|
Developmental delay
Intellectual developmental disorder Delayed motor development Cognitive impairment Spasticity Oculogyric crisis Diurnal fluctuations Dystonia (any or unspecified) Hypotonia Sleep benefit Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
0
|
2
|
n.a.
|
Cognitive impairment
Delayed motor development Rigidity Intellectual developmental disorder Sleep benefit Dystonia (any or unspecified) Developmental delay Oculogyric crisis Diurnal fluctuations Hypotonia Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Hypotonia
Intellectual developmental disorder Sleep benefit Cognitive impairment Delayed motor development Dystonia (any or unspecified) Developmental delay Spasticity Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
No
|
Intellectual developmental disorder
Hypotonia Dystonia (any or unspecified) Developmental delay Sleep benefit Delayed motor development Spasticity Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
0
|
2
|
n.a.
|
Delayed motor development
Dystonia (any or unspecified) Oculogyric crisis Sleep benefit Rigidity Hypotonia Developmental delay Intellectual developmental disorder Diurnal fluctuations Cognitive impairment Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Delayed motor development
Sleep benefit Cognitive impairment Dystonia (any or unspecified) Hypotonia Intellectual developmental disorder Spasticity Developmental delay Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Intellectual developmental disorder
Cognitive impairment Delayed motor development Hypotonia Sleep benefit Developmental delay Dystonia (any or unspecified) Spasticity Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Intellectual developmental disorder
Hypotonia Developmental delay Cognitive impairment Spasticity Sleep benefit Dystonia (any or unspecified) Delayed motor development Show more (+5) |
n.a.
|