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