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