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