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.
|
Parkinsonism
Dystonia, foot Dystonia (any or unspecified) Motor delay Dystonia/Parkinsonism Muscular hypotonia Delayed speech and language development Spasticity Microcephaly Global developmental delay Decreased body weight Developmental regression Lower limb dystonia Dystonia, leg Dystonia, limb Show more (+12) |
Dystonia, limb
|
|
No
|
♂
|
A
|
PAK
|
0
|
2
|
n.a.
|
Dystonia/Parkinsonism
Muscular hypotonia Delayed speech and language development Global developmental delay Parkinsonism Tremor (any or unspecified) Dystonia (any or unspecified) Spasticity Motor delay Developmental regression Dystonia, limb Show more (+8) |
Tremor (any or unspecified)
|