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, generalized
Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♀
|
C
|
AUS
|
10
|
26
|
n.a.
|
Dysarthria
Dysmorphic features Dystonia, leg Dystonia, oromandibular Cognitive impairment Torticollis Dystonia (any or unspecified) Retrocollis Dystonia, craniofacial Dystonia, cervical Dystonia, foot Dystonia, hand Dystonia, laryngeal Dystonia, generalized Dystonia, limb Dystonia, lower face 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
Dystonia, lower face Torticollis Dystonia, limb Tremor (any or unspecified) Retrocollis Dystonia (any or unspecified) Dysphonia Dystonia, generalized Dystonia, hand Dystonic tremor Dystonia, arm Dystonia, oromandibular Dystonia, cervical Dystonia, craniofacial Dystonia, axial Tremor, limb Dystonia, jaw Dystonia, laryngeal Dysarthria Dystonia, foot Show more (+18) |
n.a.
|