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