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