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