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