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