Mencacci, 2015: Overview of all reported 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
Alcohol responsiveness Myoclonus, multifocal Dystonia (any or unspecified) Dystonia, upper limb Myoclonus, Upper Limb Show more (+3) |
Myoclonus, Upper Limb
|
|
Yes
|
♂
|
C
|
DEU
|
10
|
62
|
Yes
|
Tremor (any or unspecified)
Dystonia, truncal Myoclonus Dystonia, cervical Alcohol responsiveness Myoclonus, multifocal Myoclonus, Upper Limb Dystonia (any or unspecified) Dystonia, upper limb Show more (+6) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
5
|
20
|
Yes
|
Dystonia, upper limb
Alcohol responsiveness Myoclonus Myoclonus, multifocal Dystonia (any or unspecified) Myoclonus, Upper Limb Show more (+3) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
20
|
44
|
Yes
|
Alcohol responsiveness
Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, cervical Show more (+1) |
n.a.
|
|
No
|
♂
|
C
|
GBR
|
5
|
19
|
Yes
|
Myoclonus, Upper Limb
Myoclonus, multifocal Myoclonus Myoclonus, cervical Alcohol responsiveness Show more (+2) |
Myoclonus, Upper Limb
|
|
No
|
♀
|
C
|
GBR
|
6
|
65
|
Yes
|
Dystonia (any or unspecified)
Myoclonus, multifocal Alcohol responsiveness Myoclonus Myoclonus, Upper Limb Dystonia, upper limb Myoclonus, face Dystonia, cervical Show more (+5) |
Myoclonus, Upper Limb
|
|
Yes
|
♀
|
C
|
GBR
|
10
|
70
|
Yes
|
Alcohol responsiveness
Myoclonus, face Dystonia, lower limb Dystonia, truncal Dystonia,task-specific Dystonia (any or unspecified) Dystonia, cervical Dystonia, upper limb Myoclonus, multifocal Myoclonus, Upper Limb Myoclonus, cervical Myoclonus Show more (+9) |
Myoclonus, Upper Limb
|
|
No
|
♂
|
C
|
GBR
|
10
|
35
|
Yes
|
Alcohol responsiveness
Dystonia, upper limb Dystonia, cervical Dystonia (any or unspecified) Depression Myoclonus, Upper Limb Myoclonus Myoclonus, multifocal Obssesive Compulsive Disorder Myoclonus, face Show more (+7) |
Myoclonus, Upper Limb
|