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