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