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.
|
Dysarthria
Dystonia, axial Dystonia, generalized Dysphonia Dystonia, cervical Dystonia,task-specific Dystonia, foot Dystonia (any or unspecified) Dystonia, limb Dystonia, laryngeal Retrocollis Dystonia, leg Show more (+9) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♂
|
C
|
CZE
|
43
|
60
|
n.a.
|
Dystonia, limb
Dystonia (any or unspecified) Dysphonia Tremor (any or unspecified) Dystonia, laryngeal Dystonia, axial Dystonia, generalized Dystonia, cervical Dysarthria Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
CZE
|
7
|
52
|
n.a.
|
Dystonia, limb
Dystonia, cervical Dystonia, leg Dystonia, foot Retrocollis Torticollis Dystonia, craniofacial Dysarthria Dystonia, tongue Dystonia, laryngeal Tremor (any or unspecified) Dystonia, generalized Dystonia, axial Dystonia (any or unspecified) Show more (+11) |
Dystonia, foot
|