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