Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
2
|
19
|
Yes
|
Myoclonus,generalized
Myoclonus, cervical Myoclonus, lower limb Myoclonus, face Myoclonus Myoclonus, Upper Limb Myoclonus, axial Myoclonus, action Show more (+5) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
12
|
41
|
Yes
|
Obssesive Compulsive Disorder
Myoclonus, face Myoclonus Myoclonus, multifocal Myoclonus, Upper Limb Myoclonus, cervical Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
6
|
47
|
Yes
|
Writer's Cramp
Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
2
|
8
|
No
|
Myoclonus, Upper Limb
Myoclonus, cervical Myoclonus, action Myoclonus, multifocal Dystonia (any or unspecified) Myoclonus Dystonia, upper limb Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
6
|
14
|
Yes
|
Myoclonus
Myoclonus, Upper Limb Myoclonus, cervical Myoclonus, multifocal Myoclonus, action Show more (+2) |
n.a.
|