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