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