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