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