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