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