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