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