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