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