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