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