Carecchio, 2013: 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.
|
6
|
30
|
No
|
Anxiety panic attacks
Myoclonus Myoclonus, cervical Myoclonus, Upper Limb Myoclonus, multifocal Dystonia, cervical Dystonia, upper limb Dystonia (any or unspecified) Show more (+5) |
Dystonia, cervical
Dystonia, upper limb |
|
Yes
|
♂
|
n.a.
|
n.a.
|
19
|
51
|
n.a.
|
Dystonia, cervical
Dystonia (any or unspecified) Obssesive Compulsive Disorder Depression Show more (+1) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
30
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
66
|
No
|
Myoclonus, axial
Myoclonus, Upper Limb Myoclonus Myoclonus,generalized Dystonia (any or unspecified) Myoclonus, multifocal Dystonia, upper limb Myoclonus, cervical Dystonia, cervical Show more (+6) |
Dystonia, upper limb
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
8
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
70
|
Yes
|
Myoclonus, multifocal
Dystonia, lower limb Dystonia (any or unspecified) Myoclonus Dystonia, upper limb Dystonia, cervical Myoclonus, lower limb Myoclonus, Upper Limb Show more (+5) |
Dystonia (any or unspecified)
Myoclonus |
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
33
|
Yes
|
Dystonia (any or unspecified)
Myoclonus, lower limb Myoclonus Myoclonus, axial Myoclonus, Upper Limb Dystonia, upper limb Dystonia, cervical Myoclonus,generalized Show more (+5) |
Myoclonus, lower limb
Myoclonus, Upper Limb |
|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
75
|
No
|
Dystonia (any or unspecified)
Myoclonus, cervical Myoclonus, lower limb Myoclonus,generalized Myoclonus, axial Myoclonus Dystonia, upper limb Myoclonus, Upper Limb Anxiety panic attacks Show more (+6) |
Dystonia (any or unspecified)
Myoclonus |