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