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