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