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