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