Kumar, 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
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia, generalized |
n.a.
|
|
Yes
|
♀
|
C
|
AUS
|
10
|
26
|
n.a.
|
Dysarthria
Dystonia, lower face Dystonia, leg Retrocollis Dysmorphic features Dystonia, hand Dystonia, laryngeal Dystonia, generalized Cognitive impairment Dystonia, oromandibular Dystonia, cervical Dystonia (any or unspecified) Dystonia, foot Dystonia, craniofacial Dystonia, limb Torticollis Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
No
|
n.a.
|
||
Yes
|
♂
|
A
|
IND
|
5
|
23
|
n.a.
|
Dystonia, leg
Dystonic tremor Tremor (any or unspecified) Dysphonia Retrocollis Dystonia, lower face Dystonia, axial Dystonia (any or unspecified) Dysarthria Dystonia, limb Dystonia, craniofacial Dystonia, laryngeal Dystonia, hand Dystonia, cervical Dystonia, foot Torticollis Dystonia, jaw Tremor, limb Dystonia, generalized Dystonia, oromandibular Dystonia, arm Show more (+18) |
n.a.
|