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