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