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