Dafsari, 2019: 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
|
n.a.
|
6
|
18
|
n.a.
|
Torticollis
Dystonia, limb Dystonia (any or unspecified) Dystonia, cervical Dyskinesia Dystonia, craniofacial Dystonia, laryngeal Dysarthria Dystonia, foot Dystonia, lower face Dystonia, axial Dystonia, oromandibular Dystonia, generalized Retrocollis Dysphonia Show more (+12) |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
0
|
47
|
n.a.
|
Dystonia, lower face
Dystonia, foot Dystonia, generalized Dystonia, craniofacial Dystonia, laryngeal Dystonia, cervical Dysarthria Dystonia, leg Torticollis Dystonia (any or unspecified) Dystonia, axial Dystonia, oromandibular Dystonia, limb Show more (+10) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, hand Torticollis Depression Dystonia, oromandibular Dystonia, leg Dystonia, limb Dysarthria Dystonia, foot Dysphonia Dystonia, laryngeal Dystonia, lower face Dyskinesia Dystonia, cervical Dystonia, craniofacial Dystonia, axial Show more (+14) |
n.a.
|