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