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
|
Developmental delay
Hypotonia Dystonia (any or unspecified) Cognitive impairment Sleep benefit Delayed motor development Spasticity Intellectual developmental disorder Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
0
|
n.a.
|
n.a.
|
Cognitive impairment
Dystonia (any or unspecified) Hypotonia Diurnal fluctuations Oculogyric crisis Spasticity Sleep benefit Delayed motor development Developmental delay Intellectual developmental disorder Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
0
|
n.a.
|
n.a.
|
Oculogyric crisis
Sleep benefit Hypotonia Intellectual developmental disorder Delayed motor development Cognitive impairment Dystonia (any or unspecified) Diurnal fluctuations Spasticity Developmental delay Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
0
|
2
|
n.a.
|
Hypotonia
Dystonia (any or unspecified) Developmental delay Rigidity Sleep benefit Oculogyric crisis Delayed motor development Intellectual developmental disorder Diurnal fluctuations Cognitive impairment Show more (+7) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Delayed motor development Cognitive impairment Developmental delay Hypotonia Spasticity Sleep benefit Intellectual developmental disorder Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
No
|
Developmental delay
Intellectual developmental disorder Hypotonia Delayed motor development Cognitive impairment Spasticity Dystonia (any or unspecified) Sleep benefit Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
0
|
2
|
n.a.
|
Delayed motor development
Hypotonia Dystonia (any or unspecified) Developmental delay Cognitive impairment Sleep benefit Oculogyric crisis Intellectual developmental disorder Rigidity Diurnal fluctuations Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Delayed motor development
Hypotonia Intellectual developmental disorder Developmental delay Cognitive impairment Spasticity Dystonia (any or unspecified) Sleep benefit Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Delayed motor development
Spasticity Dystonia (any or unspecified) Hypotonia Sleep benefit Intellectual developmental disorder Cognitive impairment Developmental delay Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
SAU
|
1
|
n.a.
|
n.a.
|
Cognitive impairment
Sleep benefit Dystonia (any or unspecified) Intellectual developmental disorder Hypotonia Spasticity Delayed motor development Developmental delay Show more (+5) |
n.a.
|