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