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