Karam, 2011: Overview of all reported DYT/PARK-QDPR patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
LBN
|
1
|
5
|
No
|
Lower limb dystonia
Seizures Delayed speech and language development Phenylketonuria Dystonia, limb Muscular hypotonia Intellectual developmental disorder Developmental delay/intellectual disability Cognitive impairment Global developmental delay Upper limb dystonia Dyskinesia -Motor Dystonia (any or unspecified) Microcephaly Motor delay Gait difficulties Short stature Decreased body weight Show more (+16) |
Muscular hypotonia
Global developmental delay |