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