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