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