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