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