Robinson, 1999: Overview of all reported DYT/PARK-GCH1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
0
|
17
|
n.a.
|
Dystonia, axial
Delayed speech and language development Rigidity Diurnal fluctuations Muscular hypotonia Global developmental delay Developmental regression Motor delay Dystonia, generalized Dystonia (any or unspecified) Dyskinesia Show more (+8) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Motor delay
Delayed speech and language development Global developmental delay Muscular hypotonia Dysarthria Developmental regression Rigidity Diurnal fluctuations Dystonia (any or unspecified) Dyskinesia Show more (+7) |
Muscular hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
22
|
n.a.
|
Dystonia, foot
|