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