Mencacci, 2015: Overview of all reported MYC/DYT-KCTD17 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
GBR
|
10
|
46
|
Yes
|
Alcohol responsiveness
Dystonia, upper limb Dystonia (any or unspecified) Myoclonus Myoclonus, multifocal Myoclonus, Upper Limb Show more (+3) |
Myoclonus, Upper Limb
|
|
Yes
|
♂
|
C
|
DEU
|
10
|
62
|
Yes
|
Dystonia, upper limb
Myoclonus, Upper Limb Alcohol responsiveness Dystonia (any or unspecified) Dystonia, truncal Myoclonus, multifocal Dystonia, cervical Tremor (any or unspecified) Myoclonus Show more (+6) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
5
|
20
|
Yes
|
Dystonia (any or unspecified)
Myoclonus Myoclonus, Upper Limb Alcohol responsiveness Dystonia, upper limb Myoclonus, multifocal Show more (+3) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
20
|
44
|
Yes
|
Alcohol responsiveness
Dystonia, cervical Dystonia (any or unspecified) Tremor (any or unspecified) Show more (+1) |
n.a.
|
|
No
|
♂
|
C
|
GBR
|
5
|
19
|
Yes
|
Myoclonus
Myoclonus, cervical Alcohol responsiveness Myoclonus, Upper Limb Myoclonus, multifocal Show more (+2) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
6
|
65
|
Yes
|
Myoclonus, face
Dystonia, cervical Myoclonus, Upper Limb Myoclonus, multifocal Myoclonus Alcohol responsiveness Dystonia, upper limb Dystonia (any or unspecified) Show more (+5) |
Myoclonus, Upper Limb
|
|
Yes
|
♀
|
C
|
GBR
|
10
|
70
|
Yes
|
Myoclonus, Upper Limb
Dystonia, lower limb Myoclonus Myoclonus, multifocal Dystonia, truncal Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, cervical Dystonia, cervical Myoclonus, face Alcohol responsiveness Dystonia,task-specific Show more (+9) |
Myoclonus, Upper Limb
|
|
No
|
♂
|
C
|
GBR
|
10
|
35
|
Yes
|
Obssesive Compulsive Disorder
Myoclonus Dystonia, cervical Dystonia (any or unspecified) Myoclonus, face Depression Dystonia, upper limb Myoclonus, multifocal Myoclonus, Upper Limb Alcohol responsiveness Show more (+7) |
Myoclonus, Upper Limb
|