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