Kosutzka, 2019: Overview of all reported DYT-SGCE patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
14
|
50
|
n.a.
|
Dystonia (any or unspecified)
Myoclonus, action Myoclonus, Upper Limb Myoclonus at rest Myoclonus,generalized Myoclonus Dystonia, upper limb Myoclonus, axial Dystonia, truncal Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
82
|
n.a.
|
Dystonia, cervical
Myoclonus at rest Myoclonus, action Dystonia, upper limb Myoclonus,generalized Dystonia (any or unspecified) Myoclonus, axial Myoclonus Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
4
|
24
|
n.a.
|
Myoclonus, Upper Limb
Dystonia, truncal Myoclonus, axial Myoclonus at rest Dystonia, cervical Dystonia (any or unspecified) Myoclonus, action Myoclonus Myoclonus,generalized Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
33
|
n.a.
|
Myoclonus, axial
Myoclonus, action Myoclonus,generalized Myoclonus Dystonia (any or unspecified) Myoclonus at rest Dystonia, upper limb Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
25
|
53
|
n.a.
|
Dystonia, truncal
Myoclonus,generalized Myoclonus, axial Dystonia, upper limb Myoclonus, Upper Limb Myoclonus Myoclonus at rest Myoclonus, action Dystonia (any or unspecified) Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
28
|
n.a.
|
Dystonia (any or unspecified)
Myoclonus, action Myoclonus, Upper Limb Myoclonus,generalized Myoclonus at rest Myoclonus Myoclonus, axial Dystonia, upper limb Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
24
|
n.a.
|
Myoclonus, Upper Limb
Dystonia (any or unspecified) Myoclonus, action Dystonia, cervical Dystonia, upper limb Myoclonus at rest Myoclonus, multifocal Myoclonus Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
10
|
37
|
n.a.
|
Myoclonus at rest
Myoclonus Myoclonus, multifocal Myoclonus, action Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, Upper Limb Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
39
|
n.a.
|
Myoclonus, action
Myoclonus at rest Dystonia, lower limb Dystonia (any or unspecified) Myoclonus Myoclonus, cervical Dystonia, cervical Dystonia, upper limb Myoclonus, multifocal Myoclonus, face Show more (+7) |
n.a.
|