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