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
|
Dystonia (any or unspecified)
Dystonia, upper limb Myoclonus, Upper Limb Myoclonus Alcohol responsiveness Myoclonus, multifocal Show more (+3) |
Myoclonus, Upper Limb
|
|
Yes
|
♂
|
C
|
DEU
|
10
|
62
|
Yes
|
Myoclonus
Dystonia, upper limb Dystonia, cervical Myoclonus, multifocal Dystonia (any or unspecified) Alcohol responsiveness Dystonia, truncal Tremor (any or unspecified) Myoclonus, Upper Limb Show more (+6) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
5
|
20
|
Yes
|
Myoclonus
Alcohol responsiveness Myoclonus, Upper Limb Dystonia, upper limb Dystonia (any or unspecified) Myoclonus, multifocal Show more (+3) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
20
|
44
|
Yes
|
Dystonia, cervical
Alcohol responsiveness Tremor (any or unspecified) Dystonia (any or unspecified) Show more (+1) |
n.a.
|
|
No
|
♂
|
C
|
GBR
|
5
|
19
|
Yes
|
Alcohol responsiveness
Myoclonus, multifocal Myoclonus, Upper Limb Myoclonus, cervical Myoclonus Show more (+2) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
6
|
65
|
Yes
|
Myoclonus, Upper Limb
Myoclonus, face Myoclonus, multifocal Dystonia (any or unspecified) Dystonia, cervical Myoclonus Dystonia, upper limb Alcohol responsiveness Show more (+5) |
Myoclonus, Upper Limb
|
|
Yes
|
♀
|
C
|
GBR
|
10
|
70
|
Yes
|
Myoclonus, multifocal
Dystonia, truncal Dystonia, upper limb Alcohol responsiveness Dystonia,task-specific Dystonia, lower limb Myoclonus, cervical Dystonia (any or unspecified) Myoclonus, face Myoclonus Myoclonus, Upper Limb Dystonia, cervical Show more (+9) |
Myoclonus, Upper Limb
|
|
No
|
♂
|
C
|
GBR
|
10
|
35
|
Yes
|
Alcohol responsiveness
Myoclonus, multifocal Obssesive Compulsive Disorder Myoclonus, face Dystonia, cervical Myoclonus, Upper Limb Dystonia, upper limb Myoclonus Dystonia (any or unspecified) Depression Show more (+7) |
Myoclonus, Upper Limb
|