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