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