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