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