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