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