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