Horvath, 2008: Overview of all reported DYT/PARK-GCH1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PAK
|
1
|
3
|
n.a.
|
Global developmental delay
Developmental regression Decreased body weight Dystonia, foot Lower limb dystonia Dystonia/Parkinsonism Dystonia, limb Parkinsonism Dystonia (any or unspecified) Delayed speech and language development Microcephaly Motor delay Dystonia, leg Muscular hypotonia Spasticity Show more (+12) |
Dystonia, limb
|
|
No
|
♂
|
A
|
PAK
|
0
|
2
|
n.a.
|
Parkinsonism
Developmental regression Dystonia (any or unspecified) Dystonia, limb Global developmental delay Muscular hypotonia Spasticity Tremor (any or unspecified) Dystonia/Parkinsonism Delayed speech and language development Motor delay Show more (+8) |
Tremor (any or unspecified)
|