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, generalized
Global developmental delay Motor delay Delayed speech and language development Diurnal fluctuations Rigidity Dystonia, axial Dyskinesia Muscular hypotonia Developmental regression Dystonia (any or unspecified) Show more (+8) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Dyskinesia
Delayed speech and language development Developmental regression Global developmental delay Diurnal fluctuations Motor delay Muscular hypotonia Rigidity Dysarthria Dystonia (any or unspecified) Show more (+7) |
Muscular hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
22
|
n.a.
|
Dystonia, foot
|