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