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