Koht, 2014: 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
|
♀
|
A
|
LKA
|
2
|
17
|
n.a.
|
Oculogyric crisis
Developmental delay Delayed motor development Hypotonia Dystonia, segmental/multifocal Autonomic sign/sympt. Diurnal fluctuations Dystonia (any or unspecified) Sleep disorder Dystonia, cervical Show more (+7) |
Developmental delay
Hypotonia |
|
No
|
♀
|
A
|
LKA
|
1
|
9
|
n.a.
|
Dyskinesia
Lower limb dystonia Hypotonia Dystonia (any or unspecified) Developmental delay Diurnal fluctuations Dystonia, limb Oculogyric crisis Upper limb dystonia Dystonia, segmental/multifocal Delayed motor development Show more (+8) |
Hypotonia
Developmental delay |