Zech, 2017: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
CZE
|
17
|
21
|
n.a.
|
Dystonia, axial
Dystonia, generalized Dystonia (any or unspecified) Retrocollis Dystonia, cervical Dystonia, laryngeal Dysphonia Dysarthria Dystonia, limb Dystonia, leg Dystonia,task-specific Dystonia, foot Show more (+9) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♂
|
C
|
CZE
|
43
|
60
|
n.a.
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, laryngeal Dysarthria Dystonia, cervical Dystonia, axial Tremor (any or unspecified) Dysphonia Dystonia, generalized Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
CZE
|
7
|
52
|
n.a.
|
Dystonia, foot
Retrocollis Dystonia, tongue Dystonia (any or unspecified) Dystonia, generalized Dystonia, leg Dystonia, laryngeal Dystonia, craniofacial Dystonia, cervical Dysarthria Tremor (any or unspecified) Torticollis Dystonia, limb Dystonia, axial Show more (+11) |
Dystonia, foot
|