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.
|
Dystonia, craniofacial
Dystonia, leg Dystonia, laryngeal Torticollis Dystonia (any or unspecified) Retrocollis Dysmorphic features Dystonia, hand Dystonia, generalized Dystonia, oromandibular Dystonia, lower face Dystonia, cervical Dysarthria Cognitive impairment Dystonia, foot Dystonia, limb 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, craniofacial
Dystonia, hand Dystonia, lower face Dystonia, cervical Dysphonia Dystonia, arm Tremor (any or unspecified) Dystonia, axial Dystonic tremor Dystonia, generalized Retrocollis Torticollis Tremor, limb Dystonia, oromandibular Dystonia, foot Dystonia (any or unspecified) Dystonia, leg Dystonia, laryngeal Dystonia, limb Dystonia, jaw Dysarthria Show more (+18) |
n.a.
|