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