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