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