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