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