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