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