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