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