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