Kosutzka, 2019: Overview of all reported MYC/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, upper limb
Myoclonus Myoclonus, action Myoclonus,generalized Dystonia, truncal Dystonia (any or unspecified) Myoclonus, axial Myoclonus at rest Myoclonus, Upper Limb Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
82
|
n.a.
|
Myoclonus
Myoclonus, axial Dystonia, upper limb Myoclonus at rest Dystonia (any or unspecified) Myoclonus, action Dystonia, cervical Myoclonus,generalized Show more (+5) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
4
|
24
|
n.a.
|
Myoclonus, action
Myoclonus,generalized Myoclonus, Upper Limb Myoclonus at rest Dystonia (any or unspecified) Myoclonus Dystonia, truncal Dystonia, cervical Myoclonus, axial Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
33
|
n.a.
|
Myoclonus, action
Myoclonus,generalized Myoclonus Dystonia (any or unspecified) Myoclonus at rest Dystonia, upper limb Myoclonus, axial Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
25
|
53
|
n.a.
|
Dystonia, upper limb
Myoclonus at rest Myoclonus, action Myoclonus,generalized Myoclonus Dystonia (any or unspecified) Myoclonus, axial Myoclonus, Upper Limb Dystonia, truncal Show more (+6) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
28
|
n.a.
|
Dystonia, upper limb
Myoclonus Myoclonus, axial Myoclonus at rest Myoclonus, action Dystonia (any or unspecified) Myoclonus,generalized Myoclonus, Upper Limb Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
24
|
n.a.
|
Dystonia, cervical
Myoclonus, action Myoclonus at rest Dystonia, upper limb Myoclonus Myoclonus, Upper Limb Dystonia (any or unspecified) Myoclonus, multifocal Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
10
|
37
|
n.a.
|
Myoclonus, Upper Limb
Myoclonus Dystonia, upper limb Myoclonus, multifocal Dystonia (any or unspecified) Myoclonus at rest Myoclonus, action Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
39
|
n.a.
|
Myoclonus, cervical
Myoclonus, face Myoclonus at rest Myoclonus, action Dystonia (any or unspecified) Dystonia, cervical Myoclonus, multifocal Dystonia, upper limb Dystonia, lower limb Myoclonus Show more (+7) |
n.a.
|