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
|
Gait difficulties
-Motor Lower limb dystonia Decreased body weight Upper limb dystonia Short stature Global developmental delay Dystonia, limb Delayed speech and language development Microcephaly Phenylketonuria Cognitive impairment Muscular hypotonia Intellectual developmental disorder Developmental delay/intellectual disability Dystonia (any or unspecified) Dyskinesia Seizures Motor delay Show more (+16) |
Global developmental delay
Muscular hypotonia |