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