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